| 2-3 toe syndactyly | 2 | Nov 12, 2016 |
| 2-aminoadipic 2-oxoadipic aciduria | 1 | Nov 24, 2020 |
| 2-hydroxyglutaric aciduria | 1 | Nov 24, 2020 |
| 3-4 toe syndactyly | 1 | Nov 12, 2016 |
| 3-Methylglutaconic aciduria type 3 | 1 | Nov 24, 2020 |
| 3-methylcrotonyl-CoA carboxylase 1 deficiency | 1 | Nov 24, 2020 |
| 3M syndrome 1 | 1 | Nov 24, 2020 |
| 3M syndrome 2 | 1 | Nov 24, 2020 |
| 3M syndrome 3 | 2 | Nov 24, 2020 |
| 3MC syndrome 1 | 3 | Nov 24, 2020 |
| 4-5 finger syndactyly | 2 | Dec 8, 2017 |
| 46,XX sex reversal 4 | 1 | Nov 24, 2020 |
| 46,XY sex reversal 6 | 1 | Nov 24, 2020 |
| 4p partial monosomy syndrome | 2 | Nov 24, 2020 |
| 8q24.3 microdeletion syndrome | 1 | Nov 24, 2020 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 3 | Nov 24, 2020 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 2 | Nov 24, 2020 |
| ALG1-congenital disorder of glycosylation | 1 | Nov 24, 2020 |
| ALG3-congenital disorder of glycosylation | 1 | Nov 24, 2020 |
| ALG8 congenital disorder of glycosylation | 1 | Nov 24, 2020 |
| Aarskog syndrome | 2 | Nov 24, 2020 |
| Abdominal colic | 1 | Nov 12, 2016 |
| Abdominal pain | 2 | Nov 12, 2016 |
| Abnormal aortic valve morphology | 1 | Dec 8, 2017 |
| Abnormal basal ganglia morphology | 1 | Dec 8, 2017 |
| Abnormal bleeding | 3 | Dec 8, 2017 |
| Abnormal blistering of the skin | 8 | Dec 8, 2017 |
| Abnormal brain morphology | 2 | Dec 8, 2017 |
| Abnormal brainstem MRI signal intensity | 1 | Dec 8, 2017 |
| Abnormal cardiovascular system morphology | 4 | Dec 8, 2017 |
| Abnormal cerebral white matter morphology | 3 | Apr 8, 2020 |
| Abnormal choroid morphology | 1 | Nov 12, 2016 |
| Abnormal circulating calcium concentration | 1 | Dec 8, 2017 |
| Abnormal circulating carbohydrate concentration | 1 | Dec 8, 2017 |
| Abnormal circulating ornithine concentration | 1 | Dec 8, 2017 |
| Abnormal corpus callosum morphology | 4 | Nov 12, 2016 |
| Abnormal cortical gyration | 2 | Dec 8, 2017 |
| Abnormal dental enamel morphology | 3 | Nov 12, 2016 |
| Abnormal digit morphology | 2 | Dec 8, 2017 |
| Abnormal earlobe morphology | 1 | Nov 12, 2016 |
| Abnormal electroretinogram | 7 | Dec 8, 2017 |
| Abnormal emotion | 1 | Dec 8, 2017 |
| Abnormal eyebrow morphology | 1 | Nov 12, 2016 |
| Abnormal facial shape | 34 | Dec 8, 2017 |
| Abnormal foot morphology | 2 | Dec 8, 2017 |
| Abnormal heart valve morphology | 1 | Dec 8, 2017 |
| Abnormal hemoglobin | 1 | Nov 12, 2016 |
| Abnormal intrahepatic bile duct morphology | 2 | Dec 8, 2017 |
| Abnormal left ventricle morphology | 1 | Nov 12, 2016 |
| Abnormal liver function tests during pregnancy | 1 | Nov 12, 2016 |
| Abnormal macular morphology | 4 | Dec 8, 2017 |
| Abnormal mitochondria in muscle tissue | 2 | Dec 8, 2017 |
| Abnormal mitral valve morphology | 1 | Dec 8, 2017 |
| Abnormal muscle fiber dystrophin expression | 1 | Dec 8, 2017 |
| Abnormal myelination | 1 | Dec 8, 2017 |
| Abnormal optic nerve morphology | 4 | Dec 8, 2017 |
| Abnormal pattern of respiration | 2 | Dec 8, 2017 |
| Abnormal pinna morphology | 6 | Dec 8, 2017 |
| Abnormal platelet function | 2 | Dec 8, 2017 |
| Abnormal platelet morphology | 2 | Dec 8, 2017 |
| Abnormal platelet shape | 2 | Dec 8, 2017 |
| Abnormal posterior cranial fossa morphology | 1 | Dec 8, 2017 |
| Abnormal pyramidal sign | 2 | Dec 8, 2017 |
| Abnormal rectum morphology | 1 | Dec 8, 2017 |
| Abnormal retinal morphology | 4 | Dec 8, 2017 |
| Abnormal soft palate morphology | 1 | Dec 8, 2017 |
| Abnormal sternum morphology | 2 | Dec 8, 2017 |
| Abnormal talus morphology | 1 | Dec 8, 2017 |
| Abnormal trabecular meshwork morphology | 1 | Dec 8, 2017 |
| Abnormal upper motor neuron morphology | 1 | Dec 8, 2017 |
| Abnormal urinary color | 1 | Dec 8, 2017 |
| Abnormal vena cava morphology | 1 | Dec 8, 2017 |
| Abnormal zygomatic bone morphology | 1 | Dec 8, 2017 |
| Abnormality of acid-base homeostasis | 1 | Dec 8, 2017 |
| Abnormality of connective tissue | 1 | Nov 12, 2016 |
| Abnormality of macular pigmentation | 1 | Nov 12, 2016 |
| Abnormality of metabolism/homeostasis | 6 | Dec 8, 2017 |
| Abnormality of mitochondrial metabolism | 1 | Dec 8, 2017 |
| Abnormality of neuronal migration | 1 | Dec 8, 2017 |
| Abnormality of retinal pigmentation | 5 | Dec 8, 2017 |
| Abnormality of salivation | 1 | Dec 8, 2017 |
| Abnormality of speech or vocalization | 2 | Nov 12, 2016 |
| Abnormality of the anus | 1 | Dec 8, 2017 |
| Abnormality of the dentition | 8 | Dec 8, 2017 |
| Abnormality of the eye | 3 | Dec 8, 2017 |
| Abnormality of the face | 1 | Dec 8, 2017 |
| Abnormality of the kidney | 3 | Nov 12, 2016 |
| Abnormality of the lower limb | 2 | Dec 8, 2017 |
| Abnormality of the musculature | 1 | Nov 12, 2016 |
| Abnormality of the nail | 4 | Dec 8, 2017 |
| Abnormality of the ovary | 1 | Nov 12, 2016 |
| Abnormality of the pulmonary veins | 2 | Dec 8, 2017 |
| Abnormality of the skeletal system | 1 | Nov 12, 2016 |
| Abnormality of the skin | 4 | Dec 8, 2017 |
| Abnormality of the thyroid gland | 1 | Nov 12, 2016 |
| Abnormality of vision | 4 | Dec 8, 2017 |
| Abnormality of visual evoked potentials | 1 | Dec 8, 2017 |
| Abnormally lax or hyperextensible skin | 1 | Dec 8, 2017 |
| Abortive cerebellar ataxia | 7 | Nov 24, 2020 |
| Absent Achilles reflex | 2 | Dec 8, 2017 |
| Absent axillary hair | 1 | Dec 8, 2017 |
| Absent muscle fiber calpain-3 | 2 | Dec 8, 2017 |
| Absent muscle fiber dysferlin | 1 | Dec 8, 2017 |
| Absent pubic hair | 1 | Dec 8, 2017 |
| Absent speech | 17 | Apr 8, 2020 |
| Absent vertebral body mineralization | 1 | Nov 12, 2016 |
| Acanthocytosis | 1 | Nov 12, 2016 |
| Acanthosis nigricans | 2 | Dec 8, 2017 |
| Achilles tendon contracture | 4 | Dec 8, 2017 |
| Achondrogenesis type II | 9 | Nov 24, 2020 |
| Achromatopsia 2 | 3 | Nov 24, 2020 |
| Achromatopsia 3 | 5 | Feb 22, 2021 |
| Acrodysostosis 2 with or without hormone resistance | 1 | Nov 24, 2020 |
| Acrokeratosis verruciformis of Hopf | 2 | Nov 24, 2020 |
| Acromelic frontonasal dysostosis | 1 | Nov 24, 2020 |
| Acromesomelic dysplasia 1, Maroteaux type | 2 | Nov 24, 2020 |
| Action tremor | 1 | Nov 12, 2016 |
| Acute episodes of neuropathic symptoms | 1 | Nov 12, 2016 |
| Acute febrile neutrophilic dermatosis | 3 | Nov 24, 2020 |
| Acute intermittent porphyria | 5 | Nov 24, 2020 |
| Acute liver failure | 1 | Dec 8, 2017 |
| Acute myeloid leukemia | 1 | Nov 24, 2020 |
| Adams-Oliver syndrome 1 | 1 | Nov 24, 2020 |
| Adenoma sebaceum | 1 | Nov 12, 2016 |
| Adenomatous colonic polyposis | 2 | Dec 8, 2017 |
| Adenylosuccinate lyase deficiency | 1 | Nov 24, 2020 |
| Adrenal cortex carcinoma | 1 | Dec 8, 2017 |
| Adrenal pheochromocytoma | 1 | Dec 8, 2017 |
| Adrenoleukodystrophy | 5 | Nov 24, 2020 |
| Adult hypophosphatasia | 6 | Nov 24, 2020 |
| Adult-onset autosomal dominant demyelinating leukodystrophy | 1 | Nov 24, 2020 |
| Adult-onset night blindness | 4 | Dec 8, 2017 |
| Age related macular degeneration 2 | 40 | Nov 24, 2020 |
| Age related macular degeneration 6 | 1 | Nov 24, 2020 |
| Agenesis of permanent teeth | 2 | Dec 8, 2017 |
| Aggressive behavior | 2 | Dec 8, 2017 |
| Aicardi-Goutieres syndrome 2 | 2 | Nov 24, 2020 |
| Aicardi-Goutieres syndrome 6 | 3 | Nov 24, 2020 |
| Akinesia | 1 | Nov 12, 2016 |
| Alagille syndrome due to a NOTCH2 point mutation | 1 | Nov 24, 2020 |
| Alazami-Yuan syndrome | 1 | Nov 24, 2020 |
| Albinism | 9 | Dec 8, 2017 |
| Aldosterone-producing adenoma with seizures and neurological abnormalities | 1 | Nov 24, 2020 |
| Alexander disease | 3 | Nov 24, 2020 |
| Alkuraya-Kucinskas syndrome | 2 | Nov 24, 2020 |
| Allergy | 2 | Dec 8, 2017 |
| Alopecia | 1 | Dec 8, 2017 |
| Alopecia areata | 2 | Dec 8, 2017 |
| Alopecia of scalp | 3 | Nov 12, 2016 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 3 | Nov 24, 2020 |
| Alpha-N-acetylgalactosaminidase deficiency type 2 | 1 | Nov 24, 2020 |
| Alstrom syndrome | 1 | Nov 24, 2020 |
| Alveolar capillary dysplasia with pulmonary venous misalignment | 1 | Nov 24, 2020 |
| Alzheimer disease | 1 | Nov 24, 2020 |
| Alzheimer disease 4 | 2 | Nov 24, 2020 |
| Alzheimer disease 9 | 2 | Nov 24, 2020 |
| Ambiguous genitalia | 1 | Dec 8, 2017 |
| Amblyopia | 9 | Dec 8, 2017 |
| Amelocerebrohypohidrotic syndrome | 3 | Nov 24, 2020 |
| Amelogenesis imperfecta | 1 | Nov 12, 2016 |
| Amenorrhea | 2 | Dec 8, 2017 |
| Amyloidosis | 1 | Nov 12, 2016 |
| Amyotrophic lateral sclerosis type 1 | 1 | Nov 24, 2020 |
| Amyotrophic lateral sclerosis type 2, juvenile | 2 | Nov 24, 2020 |
| Amyotrophic lateral sclerosis type 6 | 1 | Nov 24, 2020 |
| Andersen Tawil syndrome | 2 | Nov 24, 2020 |
| Androgen resistance syndrome | 1 | Nov 12, 2016 |
| Anemia | 4 | Dec 8, 2017 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 1 | Nov 24, 2020 |
| Aneurysm of descending aorta | 1 | Nov 12, 2016 |
| Aneurysm-osteoarthritis syndrome | 3 | Nov 24, 2020 |
| Angioedema | 1 | Nov 12, 2016 |
| Angiofibromas | 1 | Dec 8, 2017 |
| Anonychia | 3 | Dec 8, 2017 |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 1 | Nov 24, 2020 |
| Anterior creases of earlobe | 2 | Apr 8, 2020 |
| Anteverted nares | 6 | Dec 8, 2017 |
| Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | 4 | Nov 24, 2020 |
| Anxiety | 2 | Dec 8, 2017 |
| Aortic aneurysm | 1 | Nov 12, 2016 |
| Aortic aneurysm, familial thoracic 10 | 1 | Nov 24, 2020 |
| Aortic aneurysm, familial thoracic 4 | 2 | Nov 24, 2020 |
| Aortic aneurysm, familial thoracic 7 | 1 | Nov 24, 2020 |
| Aortic dilatation | 2 | Nov 12, 2016 |
| Aortic dissection | 3 | Dec 8, 2017 |
| Aortic regurgitation | 1 | Nov 12, 2016 |
| Aortic root aneurysm | 5 | Apr 8, 2020 |
| Aortic tortuosity | 1 | Dec 8, 2017 |
| Aortic valve disease 1 | 5 | Nov 24, 2020 |
| Aplasia of the ovary | 1 | Dec 8, 2017 |
| Aplasia of the uterus | 1 | Dec 8, 2017 |
| Aplasia/Hypoplasia involving the metacarpal bones | 1 | Nov 12, 2016 |
| Aplasia/Hypoplasia of the cerebellum | 1 | Nov 12, 2016 |
| Aplasia/Hypoplasia of the corpus callosum | 2 | Dec 8, 2017 |
| Aplasia/Hypoplasia of the nails | 1 | Nov 12, 2016 |
| Aplasia/Hypoplasia of the phalanges of the hand | 1 | Nov 12, 2016 |
| Aplasia/hypoplasia of the femur | 2 | Nov 12, 2016 |
| Aplastic anemia | 1 | Dec 8, 2017 |
| Apnea | 1 | Dec 8, 2017 |
| Apnea, central sleep | 2 | Dec 8, 2017 |
| Arachnodactyly | 4 | Dec 8, 2017 |
| Areflexia of lower limbs | 2 | Nov 12, 2016 |
| Aromatase deficiency | 1 | Nov 24, 2020 |
| Arrhinia with choanal atresia and microphthalmia syndrome | 2 | Nov 24, 2020 |
| Arrhythmogenic right ventricular cardiomyopathy | 1 | Nov 12, 2016 |
| Arrhythmogenic right ventricular dysplasia 10 | 7 | May 20, 2021 |
| Arrhythmogenic right ventricular dysplasia 11 | 4 | Nov 24, 2020 |
| Arrhythmogenic right ventricular dysplasia 9 | 7 | Nov 24, 2020 |
| Arterial calcification, generalized, of infancy, 2 | 6 | Nov 24, 2020 |
| Arterial thrombosis | 1 | Dec 8, 2017 |
| Arterial tortuosity | 2 | Dec 8, 2017 |
| Arteriovenous malformation | 3 | Dec 8, 2017 |
| Arthralgia | 4 | Apr 8, 2020 |
| Arthrogryposis multiplex congenita | 3 | Nov 12, 2016 |
| Arthrogryposis, distal, type 2B3 | 5 | Nov 24, 2020 |
| Arthrogryposis, distal, with impaired proprioception and touch | 5 | Nov 24, 2020 |
| Ascending aortic dissection | 1 | Nov 12, 2016 |
| Ascending tubular aorta aneurysm | 3 | Nov 12, 2016 |
| Aspartylglucosaminuria | 2 | Nov 24, 2020 |
| Asphyxiating thoracic dystrophy 3 | 3 | Nov 24, 2020 |
| Aspiration pneumonia | 2 | Dec 8, 2017 |
| Astigmatism | 5 | Dec 8, 2017 |
| Astrocytoma | 1 | Dec 8, 2017 |
| Asymmetric septal hypertrophy | 1 | Dec 8, 2017 |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 2 | Nov 24, 2020 |
| Ataxia - oculomotor apraxia type 4 | 1 | Nov 24, 2020 |
| Ataxia-pancytopenia syndrome | 1 | Nov 24, 2020 |
| Atelosteogenesis type III | 6 | Nov 24, 2020 |
| Atopic eczema | 3 | Dec 8, 2017 |
| Atresia of urethra | 1 | Nov 12, 2016 |
| Atrial conduction disease | 1 | Nov 24, 2020 |
| Atrial fibrillation, familial, 7 | 4 | Nov 24, 2020 |
| Atrial septal defect | 9 | Dec 8, 2017 |
| Atrial septal defect 2 | 1 | Nov 24, 2020 |
| Atrial septal defect 4 | 1 | Nov 24, 2020 |
| Atrial septal defect, ostium secundum type | 2 | Dec 8, 2017 |
| Atrial septal dilatation | 1 | Dec 8, 2017 |
| Atrioventricular septal defect and common atrioventricular junction | 3 | Nov 24, 2020 |
| Atrioventricular septal defect, susceptibility to, 2 | 1 | Nov 24, 2020 |
| Atrophia bulborum hereditaria | 1 | Nov 12, 2016 |
| Atrophic scars | 3 | Dec 8, 2017 |
| Atrophy/Degeneration affecting the brainstem | 2 | Nov 12, 2016 |
| Attention deficit hyperactivity disorder | 4 | Dec 8, 2017 |
| Atypical behavior | 8 | Dec 8, 2017 |
| Au-Kline syndrome | 1 | Nov 24, 2020 |
| Aural atresia, congenital | 1 | Nov 24, 2020 |
| Auriculocondylar syndrome 2 | 1 | Nov 24, 2020 |
| Autism | 7 | Dec 8, 2017 |
| Autism spectrum disorder - epilepsy - arthrogryposis syndrome | 1 | Nov 24, 2020 |
| Autism spectrum disorder due to AUTS2 deficiency | 6 | Nov 24, 2020 |
| Autism, susceptibility to, 5 | 1 | Nov 24, 2020 |
| Autism, susceptibility to, X-linked 1 | 1 | Nov 24, 2020 |
| Autism, susceptibility to, X-linked 3 | 8 | Nov 24, 2020 |
| Autistic behavior | 3 | Dec 8, 2017 |
| Autoinflammation with arthritis and dyskeratosis | 2 | Nov 24, 2020 |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 1 | Nov 24, 2020 |
| Autosomal dominant Alport syndrome | 6 | Nov 24, 2020 |
| Autosomal dominant Parkinson disease 8 | 7 | Nov 24, 2020 |
| Autosomal dominant Robinow syndrome 1 | 4 | Nov 24, 2020 |
| Autosomal dominant Robinow syndrome 3 | 2 | Nov 24, 2020 |
| Autosomal dominant centronuclear myopathy | 6 | Nov 24, 2020 |
| Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 2 | Nov 24, 2020 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 2 | Nov 24, 2020 |
| Autosomal dominant hypocalcemia 1 | 3 | Nov 24, 2020 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | Nov 24, 2020 |
| Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 1 | Nov 24, 2020 |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 1 | Nov 24, 2020 |
| Autosomal dominant nocturnal frontal lobe epilepsy 4 | 3 | Nov 24, 2020 |
| Autosomal dominant nocturnal frontal lobe epilepsy 5 | 5 | Nov 24, 2020 |
| Autosomal dominant nonsyndromic hearing loss 1 | 3 | Nov 24, 2020 |
| Autosomal dominant nonsyndromic hearing loss 11 | 12 | Nov 24, 2020 |
| Autosomal dominant nonsyndromic hearing loss 12 | 4 | Nov 24, 2020 |
| Autosomal dominant nonsyndromic hearing loss 15 | 1 | Nov 24, 2020 |
| Autosomal dominant nonsyndromic hearing loss 20 | 1 | Nov 24, 2020 |
| Autosomal dominant nonsyndromic hearing loss 3A | 5 | Nov 24, 2020 |
| Autosomal dominant nonsyndromic hearing loss 41 | 1 | Nov 24, 2020 |
| Autosomal dominant nonsyndromic hearing loss 56 | 2 | Nov 24, 2020 |
| Autosomal dominant nonsyndromic hearing loss 65 | 4 | Nov 24, 2020 |
| Autosomal dominant sensory ataxia 1 | 1 | Nov 24, 2020 |
| Autosomal dominant slowed nerve conduction velocity | 2 | Nov 24, 2020 |
| Autosomal dominant striatal neurodegeneration type 1 | 3 | Nov 24, 2020 |
| Autosomal recessive DOPA responsive dystonia | 5 | Nov 24, 2020 |
| Autosomal recessive Kenny-Caffey syndrome | 1 | Nov 24, 2020 |
| Autosomal recessive ataxia, Beauce type | 9 | Nov 24, 2020 |
| Autosomal recessive axonal neuropathy with neuromyotonia | 1 | Nov 24, 2020 |
| Autosomal recessive congenital ichthyosis 2 | 2 | Nov 24, 2020 |
| Autosomal recessive congenital ichthyosis 4B | 2 | Nov 24, 2020 |
| Autosomal recessive cutis laxa type 2D | 2 | Nov 24, 2020 |
| Autosomal recessive distal spinal muscular atrophy 1 | 2 | Nov 24, 2020 |
| Autosomal recessive early-onset Parkinson disease 6 | 1 | Nov 24, 2020 |
| Autosomal recessive hypophosphatemic bone disease | 1 | Nov 24, 2020 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 1 | Apr 21, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 3 | Nov 24, 2020 |
| Autosomal recessive limb-girdle muscular dystrophy type 2G | 2 | Nov 24, 2020 |
| Autosomal recessive limb-girdle muscular dystrophy type 2O | 3 | Nov 24, 2020 |
| Autosomal recessive limb-girdle muscular dystrophy type 2Q | 6 | Nov 24, 2020 |
| Autosomal recessive limb-girdle muscular dystrophy type 2T | 2 | Nov 24, 2020 |
| Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | 1 | Nov 24, 2020 |
| Autosomal recessive multiple pterygium syndrome | 4 | Nov 24, 2020 |
| Autosomal recessive nonsyndromic hearing loss 1A | 1 | Apr 19, 2021 |
| Autosomal recessive nonsyndromic hearing loss 28 | 1 | Nov 24, 2020 |
| Autosomal recessive nonsyndromic hearing loss 3 | 1 | Nov 24, 2020 |
| Autosomal recessive nonsyndromic hearing loss 37 | 1 | Nov 24, 2020 |
| Autosomal recessive nonsyndromic hearing loss 4 | 1 | Nov 24, 2020 |
| Autosomal recessive nonsyndromic hearing loss 7 | 2 | Nov 24, 2020 |
| Autosomal recessive nonsyndromic hearing loss 8 | 1 | Nov 24, 2020 |
| Autosomal recessive osteopetrosis 1 | 2 | Nov 24, 2020 |
| Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | 1 | Nov 24, 2020 |
| Autosomal recessive spinocerebellar ataxia 10 | 1 | Nov 24, 2020 |
| Autosomal recessive spinocerebellar ataxia 20 | 1 | Nov 24, 2020 |
| Axenfeld-Rieger syndrome type 3 | 2 | Nov 24, 2020 |
| Axial hypotonia | 1 | Dec 8, 2017 |
| Axial muscle stiffness | 1 | Dec 8, 2017 |
| Axillary freckling | 8 | Dec 8, 2017 |
| Azorean disease | 1 | Nov 24, 2020 |
| BLOOD GROUP--LUTHERAN INHIBITOR | 1 | Nov 24, 2020 |
| Babinski sign | 1 | Nov 12, 2016 |
| Baraitser-Winter syndrome 1 | 1 | Nov 24, 2020 |
| Bardet-Biedl syndrome 1 | 2 | Nov 24, 2020 |
| Bardet-Biedl syndrome 10 | 1 | Nov 24, 2020 |
| Bardet-Biedl syndrome 11 | 2 | Nov 24, 2020 |
| Bardet-Biedl syndrome 12 | 1 | Nov 24, 2020 |
| Bardet-Biedl syndrome 13 | 1 | Nov 24, 2020 |
| Bardet-Biedl syndrome 16 | 1 | Nov 24, 2020 |
| Bardet-Biedl syndrome 4 | 1 | Nov 24, 2020 |
| Bardet-Biedl syndrome 5 | 1 | Nov 24, 2020 |
| Bardet-Biedl syndrome 6 | 1 | Nov 24, 2020 |
| Barrel-shaped chest | 2 | Dec 8, 2017 |
| Bartter disease type 1 | 1 | Nov 24, 2020 |
| Bartter disease type 3 | 5 | Nov 24, 2020 |
| Basal cell carcinoma | 1 | Nov 12, 2016 |
| Basal cell carcinoma, susceptibility to, 1 | 9 | Nov 24, 2020 |
| Basal ganglia calcification, idiopathic, 4 | 5 | Nov 24, 2020 |
| Basal laminar drusen | 1 | Nov 24, 2020 |
| Batten-Turner congenital myopathy | 1 | Nov 12, 2016 |
| Beaded hair | 1 | Nov 24, 2020 |
| Beckwith-Wiedemann syndrome | 1 | Nov 24, 2020 |
| Bell-shaped thorax | 1 | Nov 12, 2016 |
| Benign familial hematuria | 3 | Nov 24, 2020 |
| Benign recurrent intrahepatic cholestasis type 2 | 2 | Nov 24, 2020 |
| Bethlem myopathy 2 | 4 | Nov 24, 2020 |
| Bicuspid aortic valve | 4 | Dec 8, 2017 |
| Bietti crystalline corneoretinal dystrophy | 1 | Nov 24, 2020 |
| Bifid nail | 1 | Dec 8, 2017 |
| Bifid nasal tip | 1 | Nov 12, 2016 |
| Bilateral cleft lip and palate | 3 | Nov 12, 2016 |
| Bilateral cleft palate | 1 | Dec 8, 2017 |
| Bilateral conductive hearing impairment | 1 | Nov 12, 2016 |
| Bilateral cryptorchidism | 6 | Dec 8, 2017 |
| Bilateral microphthalmos | 1 | Nov 12, 2016 |
| Bilateral ptosis | 3 | Dec 8, 2017 |
| Bilateral sensorineural hearing impairment | 3 | Dec 8, 2017 |
| Bilateral talipes equinovarus | 3 | Nov 12, 2016 |
| Bilateral tonic-clonic seizure | 4 | Dec 8, 2017 |
| Biotin-responsive basal ganglia disease | 1 | Nov 24, 2020 |
| Biotinidase deficiency | 3 | Nov 24, 2020 |
| Bipolar affective disorder | 1 | Dec 8, 2017 |
| Birth length less than 3rd percentile | 1 | Dec 8, 2017 |
| Blepharocheilodontic syndrome 2 | 1 | Nov 24, 2020 |
| Blepharophimosis | 2 | Dec 8, 2017 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 6 | Nov 24, 2020 |
| Blindness | 9 | Dec 8, 2017 |
| Blue sclerae | 2 | Dec 8, 2017 |
| Blurred vision | 4 | Dec 8, 2017 |
| Borjeson-Forssman-Lehmann syndrome | 1 | Nov 24, 2020 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 4 | Nov 24, 2020 |
| Bowed humerus | 1 | Nov 12, 2016 |
| Bowel incontinence | 1 | Nov 12, 2016 |
| Bowing of limbs due to multiple fractures | 1 | Dec 8, 2017 |
| Bowing of the legs | 1 | Nov 12, 2016 |
| Bowing of the long bones | 4 | Nov 12, 2016 |
| Brachycephaly | 5 | Dec 8, 2017 |
| Brachydactyly | 6 | Dec 8, 2017 |
| Brachydactyly type A1 | 1 | Nov 24, 2020 |
| Brachyturricephaly | 1 | Dec 8, 2017 |
| Bradykinesia | 1 | Nov 12, 2016 |
| Brain abnormalities, neurodegeneration, and dysosteosclerosis | 2 | Nov 24, 2020 |
| Brain atrophy | 5 | Nov 12, 2016 |
| Brain small vessel disease 1 with or without ocular anomalies | 7 | Nov 24, 2020 |
| Branchiooculofacial syndrome | 1 | Nov 24, 2020 |
| Breast carcinoma | 10 | Dec 8, 2017 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 10 | Feb 23, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 19 | Feb 23, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 3 | 3 | Feb 23, 2023 |
| Breathing dysregulation | 5 | Dec 8, 2017 |
| Breech presentation | 2 | Nov 12, 2016 |
| Brittle cornea syndrome 1 | 3 | Nov 24, 2020 |
| Brittle cornea syndrome 2 | 2 | Nov 24, 2020 |
| Broad forehead | 3 | Dec 8, 2017 |
| Broad thumb | 1 | Nov 12, 2016 |
| Broad-based gait | 1 | Dec 8, 2017 |
| Bruck syndrome 2 | 1 | Nov 24, 2020 |
| Brugada syndrome 2 | 2 | Nov 24, 2020 |
| Brugada syndrome 4 | 3 | Nov 24, 2020 |
| Brugada syndrome 6 | 1 | Nov 24, 2020 |
| Bruising susceptibility | 4 | Dec 8, 2017 |
| Bruxism | 2 | Dec 8, 2017 |
| Bulbous nose | 1 | Dec 8, 2017 |
| Bulbous tips of toes | 1 | Dec 8, 2017 |
| Bullous ichthyosiform erythroderma | 1 | Nov 12, 2016 |
| CBL-related disorder | 5 | Nov 24, 2020 |
| CFHR5 deficiency | 1 | Nov 24, 2020 |
| CHARGE association | 15 | Nov 24, 2020 |
| CHIME syndrome | 4 | Nov 24, 2020 |
| CK syndrome | 1 | Nov 24, 2020 |
| CNS demyelination | 4 | Dec 8, 2017 |
| CNS hypomyelination | 4 | Dec 8, 2017 |
| CODAS syndrome | 3 | Nov 24, 2020 |
| COG4-congenital disorder of glycosylation | 1 | Nov 24, 2020 |
| COG5-congenital disorder of glycosylation | 1 | Nov 24, 2020 |
| COG7 congenital disorder of glycosylation | 1 | Nov 24, 2020 |
| Cachexia | 1 | Nov 12, 2016 |
| Cafe au lait spots, multiple | 18 | Dec 8, 2017 |
| Cafe-au-lait spot | 9 | Apr 8, 2020 |
| Calcaneovalgus deformity | 1 | Nov 12, 2016 |
| Calcium nephrolithiasis | 1 | Dec 8, 2017 |
| Calf muscle hypertrophy | 4 | Dec 8, 2017 |
| Camptodactyly | 2 | Nov 12, 2016 |
| Camptodactyly of 2nd-5th fingers | 1 | Apr 8, 2020 |
| Camptodactyly of finger | 3 | Nov 12, 2016 |
| Camptomelic dysplasia | 1 | Nov 24, 2020 |
| Capillary hemangioma | 1 | Nov 12, 2016 |
| Carcinoma of pancreas | 5 | Nov 24, 2020 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 5 | Nov 24, 2020 |
| Cardiac arrest | 1 | Nov 12, 2016 |
| Cardiac arrhythmia | 10 | Dec 8, 2017 |
| Cardiac arrhythmia, ankyrin-B-related | 4 | Nov 24, 2020 |
| Cardiac rhabdomyoma | 1 | Nov 12, 2016 |
| Cardiac shunt | 2 | Dec 8, 2017 |
| Cardiac valvular dysplasia, X-linked | 7 | Nov 24, 2020 |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | 2 | Nov 24, 2020 |
| Cardiofaciocutaneous syndrome 1 | 5 | Nov 24, 2020 |
| Cardiofaciocutaneous syndrome 4 | 1 | Nov 24, 2020 |
| Cardiomyopathy | 4 | Dec 8, 2017 |
| Cardiomyopathy-hypotonia-lactic acidosis syndrome | 1 | Nov 24, 2020 |
| Carney complex - trismus - pseudocamptodactyly syndrome | 3 | Nov 24, 2020 |
| Carnitine palmitoyl transferase 1A deficiency | 3 | Nov 24, 2020 |
| Carnitine palmitoyl transferase II deficiency, neonatal form | 1 | Nov 24, 2020 |
| Carotid artery stenosis | 1 | Dec 8, 2017 |
| Cataplexy | 2 | Nov 12, 2016 |
| Cataract | 10 | Dec 8, 2017 |
| Cataract 16 multiple types | 1 | Nov 24, 2020 |
| Cataract 21 multiple types | 1 | Nov 24, 2020 |
| Cataract 3 multiple types | 3 | Nov 24, 2020 |
| Cataract 30 | 1 | Nov 24, 2020 |
| Cataract 40 | 1 | Nov 24, 2020 |
| Cataract 45 | 2 | Nov 24, 2020 |
| Cataract 5 multiple types | 1 | Nov 24, 2020 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 9 | Nov 24, 2020 |
| Caudate atrophy | 1 | Nov 12, 2016 |
| Cavernous hemangioma | 4 | Dec 8, 2017 |
| Centra precocious puberty 1 | 1 | Nov 24, 2020 |
| Central hypotonia | 3 | Nov 12, 2016 |
| Central hypoventilation | 4 | Nov 12, 2016 |
| Central scotoma | 4 | Dec 8, 2017 |
| Cerebellar ataxia | 20 | Dec 8, 2017 |
| Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | 1 | Feb 26, 2021 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 | 1 | Nov 24, 2020 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 2 | Nov 24, 2020 |
| Cerebellar atrophy | 7 | Dec 8, 2017 |
| Cerebellar cyst | 2 | Nov 12, 2016 |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 6 | Nov 24, 2020 |
| Cerebellar hemangioblastoma | 1 | Dec 8, 2017 |
| Cerebellar hemisphere hypoplasia | 2 | Dec 8, 2017 |
| Cerebellar malformation | 2 | Dec 8, 2017 |
| Cerebellar vermis hypoplasia | 6 | Dec 8, 2017 |
| Cerebral amyloid angiopathy, APP-related | 2 | Nov 24, 2020 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 12 | Nov 24, 2020 |
| Cerebral arteriovenous malformation | 4 | Dec 8, 2017 |
| Cerebral atrophy | 4 | Dec 8, 2017 |
| Cerebral cavernous malformation | 6 | Nov 24, 2020 |
| Cerebral cavernous malformation 3 | 1 | Nov 24, 2020 |
| Cerebral cortical atrophy | 5 | Dec 8, 2017 |
| Cerebral hypoplasia | 2 | Nov 12, 2016 |
| Cerebral palsy, spastic quadriplegic, 2 | 1 | Nov 24, 2020 |
| Cerebrooculofacioskeletal syndrome 1 | 4 | Nov 24, 2020 |
| Cerebroretinal microangiopathy with calcifications and cysts 1 | 1 | Nov 24, 2020 |
| Cervical cancer | 3 | Nov 24, 2020 |
| Char syndrome | 1 | Nov 24, 2020 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 2 | Nov 24, 2020 |
| Charcot-Marie-Tooth disease X-linked dominant 6 | 1 | Nov 24, 2020 |
| Charcot-Marie-Tooth disease axonal type 2C | 8 | Nov 24, 2020 |
| Charcot-Marie-Tooth disease axonal type 2L | 1 | Nov 24, 2020 |
| Charcot-Marie-Tooth disease axonal type 2O | 9 | Nov 24, 2020 |
| Charcot-Marie-Tooth disease axonal type 2P | 2 | Nov 24, 2020 |
| Charcot-Marie-Tooth disease dominant intermediate E | 2 | Nov 24, 2020 |
| Charcot-Marie-Tooth disease type 1C | 1 | Nov 24, 2020 |
| Charcot-Marie-Tooth disease type 1F | 4 | Nov 24, 2020 |
| Charcot-Marie-Tooth disease type 4A | 2 | Nov 24, 2020 |
| Charcot-Marie-Tooth disease type 4B2 | 1 | Nov 24, 2020 |
| Charcot-Marie-Tooth disease type 4B3 | 1 | Nov 24, 2020 |
| Charcot-Marie-Tooth disease type 4D | 1 | Nov 24, 2020 |
| Charcot-Marie-Tooth disease type 4F | 4 | Nov 24, 2020 |
| Charlevoix-Saguenay spastic ataxia | 2 | Nov 24, 2020 |
| Chest pain | 2 | Dec 8, 2017 |
| Childhood apraxia of speech | 1 | Nov 24, 2020 |
| Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 1 | Nov 24, 2020 |
| Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | 1 | Nov 24, 2020 |
| Choanal atresia | 1 | Dec 8, 2017 |
| Choanal stenosis | 1 | Dec 8, 2017 |
| Cholestanol storage disease | 1 | Nov 24, 2020 |
| Cholestasis, intrahepatic, of pregnancy, 3 | 1 | Nov 24, 2020 |
| Chondrosarcoma | 3 | Nov 24, 2020 |
| Chorea | 1 | Nov 12, 2016 |
| Chorea-acanthocytosis | 2 | Nov 24, 2020 |
| Choreoathetosis | 1 | Dec 8, 2017 |
| Chorioretinal atrophy | 1 | Dec 8, 2017 |
| Chorioretinal coloboma | 1 | Dec 8, 2017 |
| Choroidal dystrophy, central areolar, 1 | 7 | Nov 24, 2020 |
| Choroidal neovascularization | 4 | Dec 8, 2017 |
| Choroideremia | 1 | Nov 24, 2020 |
| Christianson syndrome | 1 | Nov 24, 2020 |
| Chromosome 1p32-p31 deletion syndrome | 1 | Nov 24, 2020 |
| Chromosome 1q21.1 deletion syndrome | 1 | Nov 24, 2020 |
| Chromosome 2q32-q33 deletion syndrome | 4 | Nov 24, 2020 |
| Chronic constipation | 1 | Nov 12, 2016 |
| Chronic diarrhea | 1 | Nov 12, 2016 |
| Chronic fatigue | 1 | Dec 8, 2017 |
| Chronic infantile neurological, cutaneous and articular syndrome | 1 | Nov 24, 2020 |
| Chronic kidney disease | 3 | Dec 8, 2017 |
| Chronic pancreatitis | 2 | Dec 8, 2017 |
| Chédiak-Higashi syndrome | 2 | Nov 24, 2020 |
| Cigarette-paper scars | 1 | Dec 8, 2017 |
| Ciliary dyskinesia, primary, 40 | 2 | Nov 24, 2020 |
| Citrullinemia type I | 3 | Nov 24, 2020 |
| Clark-Baraitser syndrome | 4 | Nov 24, 2020 |
| Classic dopamine transporter deficiency syndrome | 1 | Nov 24, 2020 |
| Classic homocystinuria | 4 | Nov 24, 2020 |
| Cleft palate | 6 | Dec 8, 2017 |
| Cleft soft palate | 2 | Nov 12, 2016 |
| Cleft upper lip | 1 | Nov 12, 2016 |
| Clinodactyly | 5 | Apr 8, 2020 |
| Clinodactyly of the 5th finger | 7 | Dec 8, 2017 |
| Clonus | 2 | Dec 8, 2017 |
| Clubfoot | 14 | Nov 24, 2020 |
| Coarctation of aorta | 1 | Dec 8, 2017 |
| Coarse facial features | 3 | Dec 8, 2017 |
| Cobalamin deficiency | 2 | Dec 8, 2017 |
| Cobblestone lissencephaly without muscular or ocular involvement | 2 | Nov 24, 2020 |
| Cockayne syndrome | 1 | Nov 12, 2016 |
| Coffin-Siris syndrome 1 | 15 | Nov 24, 2020 |
| Coffin-Siris syndrome 10 | 1 | Nov 24, 2020 |
| Coffin-Siris syndrome 6 | 1 | Nov 24, 2020 |
| Coffin-Siris syndrome 7 | 1 | Nov 24, 2020 |
| Coffin-Siris syndrome 8 | 3 | Nov 24, 2020 |
| Cognitive impairment | 15 | Dec 8, 2017 |
| Cogwheel rigidity | 2 | Dec 8, 2017 |
| Cohen syndrome | 3 | Nov 24, 2020 |
| Cohen-Gibson syndrome | 1 | Nov 24, 2020 |
| Cole-Carpenter syndrome 1 | 1 | Nov 24, 2020 |
| Coloboma of optic nerve | 1 | Nov 24, 2020 |
| Colobomatous microphthalmia-rhizomelic dysplasia syndrome | 1 | Nov 24, 2020 |
| Colon cancer | 2 | Dec 8, 2017 |
| Colonic neoplasm | 1 | Dec 8, 2017 |
| Color vision defect | 4 | Dec 8, 2017 |
| Colorectal cancer | 5 | Nov 24, 2020 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 3 | Feb 23, 2023 |
| Colorectal polyposis | 2 | Dec 8, 2017 |
| Combined deficiency of sialidase AND beta galactosidase | 1 | Nov 24, 2020 |
| Combined immunodeficiency due to DOCK8 deficiency | 4 | Nov 24, 2020 |
| Combined immunodeficiency due to STIM1 deficiency | 1 | Nov 24, 2020 |
| Combined malonic and methylmalonic acidemia | 1 | Nov 24, 2020 |
| Combined oxidative phosphorylation defect type 14 | 1 | Nov 24, 2020 |
| Combined oxidative phosphorylation defect type 15 | 3 | Nov 24, 2020 |
| Combined oxidative phosphorylation defect type 23 | 3 | Nov 24, 2020 |
| Combined oxidative phosphorylation defect type 27 | 1 | Nov 24, 2020 |
| Combined oxidative phosphorylation defect type 8 | 4 | Nov 24, 2020 |
| Combined oxidative phosphorylation deficiency 44 | 1 | Nov 24, 2020 |
| Complex cortical dysplasia with other brain malformations 1 | 2 | Nov 24, 2020 |
| Complex cortical dysplasia with other brain malformations 2 | 1 | Nov 24, 2020 |
| Complex cortical dysplasia with other brain malformations 3 | 1 | Nov 24, 2020 |
| Complex cortical dysplasia with other brain malformations 5 | 1 | Nov 24, 2020 |
| Concave nasal ridge | 2 | Dec 8, 2017 |
| Conductive hearing impairment | 3 | Dec 8, 2017 |
| Cone dystrophy | 4 | Dec 8, 2017 |
| Cone-rod dystrophy 12 | 3 | Nov 24, 2020 |
| Cone-rod dystrophy 15 | 6 | Nov 24, 2020 |
| Cone-rod dystrophy 16 | 1 | Nov 24, 2020 |
| Cone-rod dystrophy 19 | 1 | Nov 24, 2020 |
| Cone-rod dystrophy 5 | 1 | Nov 24, 2020 |
| Cone-rod dystrophy 7 | 4 | Nov 24, 2020 |
| Cone-rod dystrophy and hearing loss 1 | 1 | Nov 24, 2020 |
| Congenital blindness | 1 | Nov 12, 2016 |
| Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | 1 | Nov 24, 2020 |
| Congenital cataracts-facial dysmorphism-neuropathy syndrome | 1 | Nov 24, 2020 |
| Congenital central hypoventilation | 1 | Nov 24, 2020 |
| Congenital cerebellar hypoplasia | 11 | Dec 8, 2017 |
| Congenital contracture | 5 | Apr 8, 2020 |
| Congenital diaphragmatic hernia | 1 | Nov 12, 2016 |
| Congenital diarrhea 6 | 1 | Nov 24, 2020 |
| Congenital dyserythropoietic anemia, type II | 4 | Nov 24, 2020 |
| Congenital finger flexion contractures | 1 | Nov 12, 2016 |
| Congenital heart defects and ectodermal dysplasia | 1 | Nov 24, 2020 |
| Congenital heart defects and skeletal malformations syndrome | 2 | Nov 24, 2020 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 2 | Nov 24, 2020 |
| Congenital heart defects, multiple types, 6 | 1 | Nov 24, 2020 |
| Congenital hip dislocation | 4 | Dec 8, 2017 |
| Congenital hypothyroidism | 1 | Nov 12, 2016 |
| Congenital ichthyosiform erythroderma | 1 | Dec 8, 2017 |
| Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 1 | Nov 24, 2020 |
| Congenital muscular dystrophy | 9 | Nov 12, 2016 |
| Congenital muscular hypertrophy-cerebral syndrome | 3 | Nov 24, 2020 |
| Congenital myasthenic syndrome | 2 | Nov 12, 2016 |
| Congenital myasthenic syndrome 11 | 2 | Nov 24, 2020 |
| Congenital myasthenic syndrome 15 | 1 | Nov 24, 2020 |
| Congenital myasthenic syndrome 1A | 1 | Nov 24, 2020 |
| Congenital myasthenic syndrome 2A | 2 | Nov 24, 2020 |
| Congenital myasthenic syndrome 3A | 1 | Nov 24, 2020 |
| Congenital myasthenic syndrome 4B | 3 | Nov 24, 2020 |
| Congenital myasthenic syndrome 7 | 1 | Nov 24, 2020 |
| Congenital myasthenic syndrome 8 | 1 | Nov 24, 2020 |
| Congenital myopathy with fiber type disproportion | 46 | Nov 24, 2020 |
| Congenital myotonia, autosomal recessive form | 11 | Nov 24, 2020 |
| Congenital nonbullous ichthyosiform erythroderma | 1 | Dec 8, 2017 |
| Congenital ocular coloboma | 2 | Dec 8, 2017 |
| Congenital omphalocele | 1 | Nov 12, 2016 |
| Congenital primary aphakia | 1 | Nov 24, 2020 |
| Congenital secretory diarrhea, chloride type | 1 | Nov 24, 2020 |
| Congenital sensorineural hearing impairment | 10 | Dec 8, 2017 |
| Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 1 | Nov 24, 2020 |
| Congenital stationary night blindness 1A | 1 | Nov 24, 2020 |
| Congenital stationary night blindness 1C | 1 | Nov 24, 2020 |
| Congenital stationary night blindness 1E | 2 | Nov 24, 2020 |
| Congenital stationary night blindness 1G | 2 | Nov 24, 2020 |
| Congenital stationary night blindness 2A | 4 | Nov 16, 2021 |
| Congenital vertical talus | 1 | Nov 24, 2020 |
| Congestive heart failure | 2 | Dec 8, 2017 |
| Conjunctival telangiectasia | 1 | Nov 12, 2016 |
| Connective tissue disorder | 1 | Nov 12, 2016 |
| Connective tissue nevi | 2 | Dec 8, 2017 |
| Constipation | 4 | Dec 8, 2017 |
| Constriction of peripheral visual field | 1 | Dec 8, 2017 |
| Constrictive median neuropathy | 1 | Dec 8, 2017 |
| Convex nasal ridge | 1 | Dec 8, 2017 |
| Corneal dystrophy, Fuchs endothelial, 8 | 1 | Nov 24, 2020 |
| Corneal opacity | 2 | Nov 12, 2016 |
| Cornelia de Lange syndrome 1 | 8 | Nov 24, 2020 |
| Cornelia de Lange syndrome 3 | 1 | Nov 24, 2020 |
| Cornelia de Lange syndrome 5 | 4 | Nov 24, 2020 |
| Coronal craniosynostosis | 1 | Dec 8, 2017 |
| Coronary artery disorder | 2 | Dec 8, 2017 |
| Corpus callosum, agenesis of | 9 | Dec 8, 2017 |
| Cortical dysplasia | 1 | Nov 12, 2016 |
| Cortical dysplasia-focal epilepsy syndrome | 1 | Nov 24, 2020 |
| Cortical tubers | 3 | Nov 12, 2016 |
| Cranial asymmetry | 2 | Dec 8, 2017 |
| Cranioectodermal dysplasia 4 | 2 | Nov 24, 2020 |
| Craniofacial disproportion | 1 | Dec 8, 2017 |
| Craniolenticulosutural dysplasia | 1 | Nov 24, 2020 |
| Craniometaphyseal dysplasia, autosomal dominant | 1 | Nov 24, 2020 |
| Craniosynostosis 2 | 2 | Nov 24, 2020 |
| Craniosynostosis 4 | 1 | Nov 12, 2016 |
| Craniosynostosis syndrome | 5 | Dec 8, 2017 |
| Creatine transporter deficiency | 1 | Nov 24, 2020 |
| Crouzon syndrome | 1 | Dec 8, 2017 |
| Crumpled long bones | 1 | Dec 8, 2017 |
| Cryohydrocytosis | 1 | Nov 24, 2020 |
| Cryptophthalmia | 1 | Dec 8, 2017 |
| Cryptorchidism | 4 | Dec 8, 2017 |
| Cryptotia | 1 | Dec 8, 2017 |
| Curry-Hall syndrome | 2 | Nov 24, 2020 |
| Cutaneous finger syndactyly | 1 | Nov 12, 2016 |
| Cutaneous leiomyoma | 1 | Dec 8, 2017 |
| Cutaneous photosensitivity | 1 | Nov 12, 2016 |
| Cutis laxa | 3 | Nov 12, 2016 |
| Cutis laxa, X-linked | 5 | Nov 24, 2020 |
| Cutis laxa, autosomal dominant 2 | 2 | Nov 24, 2020 |
| Cutis laxa, autosomal dominant 3 | 4 | Nov 24, 2020 |
| Cyanosis | 2 | Dec 8, 2017 |
| Cystic leukoencephalopathy without megalencephaly | 2 | Nov 24, 2020 |
| Cystic renal dysplasia | 3 | Dec 8, 2017 |
| Cystinuria | 1 | Nov 24, 2020 |
| Cystoid macular edema | 1 | Dec 8, 2017 |
| Cytochrome C oxidase-negative muscle fibers | 1 | Nov 12, 2016 |
| D-2-hydroxyglutaric aciduria 2 | 1 | Nov 24, 2020 |
| D-Glyceric aciduria | 2 | Nov 24, 2020 |
| DYRK1A-related intellectual disability syndrome | 3 | Nov 24, 2020 |
| Danon disease | 1 | Nov 24, 2020 |
| Decreased activity of mitochondrial complex I | 1 | Nov 12, 2016 |
| Decreased activity of the pyruvate dehydrogenase complex | 3 | Dec 8, 2017 |
| Decreased body weight | 12 | Apr 8, 2020 |
| Decreased calvarial ossification | 1 | Dec 8, 2017 |
| Decreased glucosephosphate isomerase level | 1 | Nov 12, 2016 |
| Decreased lacrimation | 1 | Dec 8, 2017 |
| Decreased light- and dark-adapted electroretinogram amplitude | 1 | Dec 8, 2017 |
| Decreased muscle mass | 2 | Nov 12, 2016 |
| Decreased nerve conduction velocity | 3 | Nov 12, 2016 |
| Decreased patellar reflex | 2 | Nov 12, 2016 |
| Decreased response to growth hormone stimulation test | 1 | Nov 12, 2016 |
| Deep philtrum | 1 | Nov 12, 2016 |
| Deep venous thrombosis | 1 | Dec 8, 2017 |
| Deeply set eye | 3 | Dec 8, 2017 |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 1 | Nov 24, 2020 |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 1 | Nov 24, 2020 |
| Deficiency of acetyl-CoA acetyltransferase | 3 | Nov 24, 2020 |
| Deficiency of alpha-mannosidase | 1 | Nov 24, 2020 |
| Deficiency of aromatic-L-amino-acid decarboxylase | 1 | Nov 24, 2020 |
| Deficiency of butyryl-CoA dehydrogenase | 1 | Nov 24, 2020 |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 2 | Nov 24, 2020 |
| Deficiency of iodide peroxidase | 4 | Nov 24, 2020 |
| Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 1 | Nov 24, 2020 |
| Delayed fine motor development | 6 | Dec 8, 2017 |
| Delayed gross motor development | 18 | Dec 8, 2017 |
| Delayed myelination | 2 | Nov 12, 2016 |
| Delayed puberty | 1 | Nov 12, 2016 |
| Delayed speech and language development | 53 | Dec 8, 2017 |
| Dementia | 7 | Dec 8, 2017 |
| Dental crowding | 2 | Nov 12, 2016 |
| Dental enamel pits | 1 | Nov 12, 2016 |
| Dentinogenesis imperfecta type 2 | 1 | Nov 24, 2020 |
| Depressed nasal bridge | 3 | Dec 8, 2017 |
| Depression | 3 | Dec 8, 2017 |
| Dermatofibrosis lenticularis disseminata | 1 | Nov 24, 2020 |
| Desmin-related myofibrillar myopathy | 2 | Nov 24, 2020 |
| Deuteranomaly | 1 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy 94 | 5 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy, 13 | 4 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy, 17 | 1 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy, 18 | 3 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy, 19 | 1 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy, 2 | 3 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy, 28 | 5 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy, 30 | 1 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy, 34 | 1 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy, 35 | 1 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy, 39 | 1 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy, 41 | 2 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy, 43 | 1 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy, 5 | 7 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy, 50 | 1 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy, 53 | 3 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy, 54 | 2 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy, 60 | 1 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy, 66 | 2 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy, 69 | 2 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy, 7 | 8 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy, 74 | 1 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy, 77 | 1 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy, 8 | 1 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy, 9 | 3 | Nov 24, 2020 |
| Developmental cataract | 1 | Nov 12, 2016 |
| Developmental delay | 6 | Nov 12, 2016 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 1 | Nov 24, 2020 |
| Developmental dysplasia of the hip | 1 | Nov 12, 2016 |
| Developmental regression | 11 | Apr 8, 2020 |
| Deviated nasal septum | 1 | Dec 8, 2017 |
| Diabetes mellitus | 1 | Nov 12, 2016 |
| Diamond-Blackfan anemia 10 | 1 | Nov 24, 2020 |
| Diamond-Blackfan anemia 13 | 1 | Nov 24, 2020 |
| Dicarboxylic aminoaciduria | 1 | Nov 24, 2020 |
| Difficulty climbing stairs | 1 | Dec 8, 2017 |
| Difficulty standing | 3 | Dec 8, 2017 |
| Difficulty walking | 18 | Dec 8, 2017 |
| Diffuse palmoplantar hyperkeratosis | 1 | Nov 12, 2016 |
| Dilatation of the ascending aorta | 1 | Nov 12, 2016 |
| Dilatation of the cerebral artery | 1 | Nov 12, 2016 |
| Dilatation of the sinus of Valsalva | 1 | Dec 8, 2017 |
| Dilated cardiomyopathy 1A | 9 | Nov 24, 2020 |
| Dilated cardiomyopathy 1AA | 1 | Nov 24, 2020 |
| Dilated cardiomyopathy 1C | 3 | Nov 24, 2020 |
| Dilated cardiomyopathy 1CC | 1 | Nov 24, 2020 |
| Dilated cardiomyopathy 1D | 4 | Nov 24, 2020 |
| Dilated cardiomyopathy 1DD | 2 | Nov 24, 2020 |
| Dilated cardiomyopathy 1JJ | 3 | Nov 24, 2020 |
| Dilated cardiomyopathy 1KK | 4 | Nov 24, 2020 |
| Dilated cardiomyopathy 1O | 2 | Nov 24, 2020 |
| Dilated cardiomyopathy 1Y | 4 | Nov 24, 2020 |
| Dilated cardiomyopathy 3B | 17 | Nov 24, 2020 |
| Disproportionate short stature | 1 | Dec 8, 2017 |
| Disproportionate short-limb short stature | 4 | Dec 8, 2017 |
| Disproportionate short-trunk short stature | 2 | Nov 12, 2016 |
| Disproportionate tall stature | 1 | Dec 8, 2017 |
| Dissecting aortic dilatation | 1 | Nov 12, 2016 |
| Distal amyotrophy | 1 | Dec 8, 2017 |
| Distal arthrogryposis | 5 | Dec 8, 2017 |
| Distal lower limb amyotrophy | 4 | Dec 8, 2017 |
| Distal lower limb muscle weakness | 6 | Dec 8, 2017 |
| Distal muscle weakness | 12 | Dec 8, 2017 |
| Distal myopathy with anterior tibial onset | 3 | Nov 24, 2020 |
| Distal sensory impairment | 3 | Dec 8, 2017 |
| Dolichocephaly | 11 | Dec 8, 2017 |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 3 | Nov 24, 2020 |
| Double outlet right ventricle | 1 | Dec 8, 2017 |
| Downslanted palpebral fissures | 9 | Dec 8, 2017 |
| Downturned corners of mouth | 4 | Dec 8, 2017 |
| Drooling | 2 | Dec 8, 2017 |
| Dry skin | 3 | Dec 8, 2017 |
| Duane retraction syndrome 2 | 1 | Nov 24, 2020 |
| Duane-radial ray syndrome | 1 | Nov 24, 2020 |
| Dubin-Johnson syndrome | 1 | Nov 24, 2020 |
| Duodenal polyposis | 1 | Dec 8, 2017 |
| Duodenal stenosis | 1 | Dec 8, 2017 |
| Dural ectasia | 2 | Dec 8, 2017 |
| Dysarthria | 14 | Dec 8, 2017 |
| Dyschromatopsia | 1 | Dec 8, 2017 |
| Dyskeratosis congenita, X-linked | 1 | Nov 24, 2020 |
| Dyskeratosis congenita, autosomal dominant 3 | 1 | Nov 24, 2020 |
| Dyskinesia | 1 | Dec 8, 2017 |
| Dyskinesia with orofacial involvement, autosomal dominant | 1 | Nov 24, 2020 |
| Dysmetria | 2 | Nov 12, 2016 |
| Dysmyelinating leukodystrophy | 2 | Nov 12, 2016 |
| Dysphagia | 2 | Nov 12, 2016 |
| Dysphasia | 1 | Apr 8, 2020 |
| Dysphonia | 1 | Dec 8, 2017 |
| Dyspnea | 6 | Dec 8, 2017 |
| Dyssynergia | 1 | Nov 12, 2016 |
| Dystonia 12 | 7 | Nov 24, 2020 |
| Dystonia 16 | 1 | Nov 24, 2020 |
| Dystonia 24 | 1 | Nov 24, 2020 |
| Dystonia 28, childhood-onset | 2 | Nov 24, 2020 |
| Dystonia 5 | 1 | Nov 24, 2020 |
| Dystonic disorder | 11 | Dec 8, 2017 |
| EEG abnormality | 4 | Dec 8, 2017 |
| EEG with generalized slow activity | 4 | Dec 8, 2017 |
| EEG with periodic abnormalities | 1 | Dec 8, 2017 |
| EEM syndrome | 1 | Nov 24, 2020 |
| EMG abnormality | 16 | Dec 8, 2017 |
| EMG: axonal abnormality | 6 | Dec 8, 2017 |
| EMG: myopathic abnormalities | 15 | Dec 8, 2017 |
| EMG: myotonic discharges | 3 | Dec 8, 2017 |
| EMG: myotonic runs | 3 | Dec 8, 2017 |
| EMG: neuropathic changes | 5 | Dec 8, 2017 |
| Ear malformation | 1 | Dec 8, 2017 |
| Ectodermal dysplasia | 1 | Dec 8, 2017 |
| Ectopia lentis | 4 | Apr 8, 2020 |
| Ectopic thymus tissue | 1 | Dec 8, 2017 |
| Ectopic tissue | 2 | Dec 8, 2017 |
| Edema of the dorsum of feet | 2 | Nov 12, 2016 |
| Ehlers-Danlos syndrome, classic type, 2 | 17 | Nov 24, 2020 |
| Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | 1 | Nov 24, 2020 |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 1 | Nov 24, 2020 |
| Ehlers-Danlos syndrome, periodontal type 1 | 1 | Nov 24, 2020 |
| Ehlers-Danlos syndrome, type 4 | 1 | Nov 12, 2016 |
| Elbow flexion contracture | 2 | Nov 12, 2016 |
| Electronegative electroretinogram | 1 | Dec 8, 2017 |
| Elevated circulating 7-dehydrocholesterol concentration | 2 | Nov 12, 2016 |
| Elevated circulating alkaline phosphatase concentration | 1 | Nov 12, 2016 |
| Elevated circulating creatine kinase concentration | 16 | Dec 8, 2017 |
| Elevated circulating hepatic transaminase concentration | 4 | Dec 8, 2017 |
| Elevated diastolic blood pressure | 1 | Nov 12, 2016 |
| Elevated mean arterial pressure | 1 | Dec 8, 2017 |
| Elevated right atrial pressure | 1 | Nov 12, 2016 |
| Elevated systolic blood pressure | 1 | Nov 12, 2016 |
| Elevated urinary delta-aminolevulinic acid | 1 | Nov 12, 2016 |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 7 | Nov 24, 2020 |
| Encephalitis | 1 | Dec 8, 2017 |
| Encephalocele | 2 | Dec 8, 2017 |
| Encephalocraniocutaneous lipomatosis | 3 | Nov 24, 2020 |
| Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | 2 | Nov 24, 2020 |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 1 | Nov 24, 2020 |
| Endometrial carcinoma | 6 | Nov 24, 2020 |
| Enhanced S-cone syndrome | 3 | Nov 24, 2020 |
| Enlarged cisterna magna | 2 | Dec 8, 2017 |
| Enlarged kidney | 1 | Dec 8, 2017 |
| Epicanthus | 7 | Dec 8, 2017 |
| Epidermal nevus | 2 | Nov 24, 2020 |
| Epidermolysis bullosa pruriginosa | 10 | Nov 24, 2020 |
| Epidermolysis bullosa simplex 1C, localized | 1 | Nov 24, 2020 |
| Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | 1 | Nov 24, 2020 |
| Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss | 1 | Nov 24, 2020 |
| Epidermolysis bullosa simplex, Koebner type | 2 | Nov 24, 2020 |
| Epilepsy | 2 | Nov 12, 2016 |
| Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 3 | Nov 24, 2020 |
| Epilepsy, early-onset, with or without developmental delay | 3 | Nov 24, 2020 |
| Epilepsy, familial focal, with variable foci 1 | 4 | Nov 24, 2020 |
| Epilepsy, familial focal, with variable foci 2 | 1 | Nov 24, 2020 |
| Epilepsy, familial focal, with variable foci 3 | 1 | Nov 24, 2020 |
| Epilepsy, familial focal, with variable foci 4 | 1 | Nov 24, 2020 |
| Epilepsy, familial temporal lobe, 1 | 1 | Nov 24, 2020 |
| Epilepsy, idiopathic generalized, susceptibility to, 10 | 1 | Nov 24, 2020 |
| Epilepsy, idiopathic generalized, susceptibility to, 12 | 2 | Nov 24, 2020 |
| Epileptic encephalopathy | 15 | Apr 8, 2020 |
| Epileptic encephalopathy, infantile or early childhood, 1 | 1 | Nov 24, 2020 |
| Epileptic encephalopathy, infantile or early childhood, 2 | 1 | Nov 24, 2020 |
| Epileptic spasm | 1 | Dec 8, 2017 |
| Epiphyseal dysplasia, multiple, 2 | 1 | Nov 24, 2020 |
| Epiphyseal dysplasia, multiple, 3 | 1 | Nov 24, 2020 |
| Episodic hemiplegia | 1 | Nov 12, 2016 |
| Episodic pain syndrome, familial, 2 | 3 | Nov 24, 2020 |
| Episodic vomiting | 1 | Dec 8, 2017 |
| Epistaxis | 3 | Dec 8, 2017 |
| Epithelial recurrent erosion dystrophy | 4 | Nov 24, 2020 |
| Equinovarus deformity | 1 | Dec 8, 2017 |
| Erythema | 2 | Nov 12, 2016 |
| Erythroderma | 2 | Nov 12, 2016 |
| Erythroid hypoplasia | 1 | Dec 8, 2017 |
| Erythrokeratodermia variabilis et progressiva 1 | 1 | Nov 24, 2020 |
| Esotropia | 1 | Dec 8, 2017 |
| Essential hypertension | 1 | Nov 24, 2020 |
| Ethylmalonic encephalopathy | 1 | Nov 24, 2020 |
| Even-plus syndrome | 1 | Nov 24, 2020 |
| Ewing sarcoma | 1 | Nov 24, 2020 |
| Excessive wrinkled skin | 1 | Dec 8, 2017 |
| Exercise intolerance | 1 | Dec 8, 2017 |
| Exercise-induced muscle cramps | 1 | Nov 12, 2016 |
| Exercise-induced muscle fatigue | 1 | Nov 12, 2016 |
| Exercise-induced muscle stiffness | 1 | Nov 12, 2016 |
| Exercise-induced myalgia | 7 | Dec 8, 2017 |
| Exercise-induced rhabdomyolysis | 1 | Nov 12, 2016 |
| Exostoses | 1 | Dec 8, 2017 |
| Exostoses, multiple, type 2 | 1 | Nov 24, 2020 |
| Expressive language delay | 2 | Nov 12, 2016 |
| External ophthalmoplegia | 2 | Dec 8, 2017 |
| Exudative retinopathy | 1 | Dec 8, 2017 |
| Exudative vitreoretinopathy 1 | 2 | Nov 24, 2020 |
| Exudative vitreoretinopathy 4 | 3 | Nov 24, 2020 |
| Exudative vitreoretinopathy 5 | 1 | Nov 24, 2020 |
| Exudative vitreoretinopathy 6 | 1 | Nov 24, 2020 |
| FG syndrome 4 | 2 | Nov 24, 2020 |
| FRAXE | 2 | Nov 24, 2020 |
| Fabry disease | 3 | Nov 24, 2020 |
| Facial asymmetry | 7 | Apr 8, 2020 |
| Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | 2 | Nov 24, 2020 |
| Facial grimacing | 1 | Nov 12, 2016 |
| Facial hemangioma | 1 | Dec 8, 2017 |
| Factor VII deficiency | 2 | Nov 24, 2020 |
| Factor XII deficiency disease | 1 | Nov 24, 2020 |
| Failure to thrive | 7 | Dec 8, 2017 |
| Fair hair | 2 | Dec 8, 2017 |
| Falls | 1 | Dec 8, 2017 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 1 | Nov 24, 2020 |
| Familial acute necrotizing encephalopathy | 1 | Nov 24, 2020 |
| Familial adenomatous polyposis 1 | 1 | Feb 23, 2021 |
| Familial adenomatous polyposis 2 | 1 | Nov 24, 2020 |
| Familial adenomatous polyposis 3 | 1 | Nov 24, 2020 |
| Familial amyloid neuropathy | 2 | Nov 24, 2020 |
| Familial aplasia of the vermis | 6 | Dec 8, 2017 |
| Familial atrioventricular septal defect | 2 | Nov 12, 2016 |
| Familial cancer of breast | 76 | Feb 23, 2023 |
| Familial episodic pain syndrome with predominantly upper body involvement | 1 | Nov 24, 2020 |
| Familial hyperaldosteronism type III | 1 | Nov 24, 2020 |
| Familial hyperthyroidism due to mutations in TSH receptor | 1 | Nov 24, 2020 |
| Familial hypobetalipoproteinemia 1 | 4 | Nov 24, 2020 |
| Familial isolated deficiency of vitamin E | 1 | Nov 24, 2020 |
| Familial juvenile hyperuricemic nephropathy type 1 | 1 | Nov 24, 2020 |
| Familial meningioma | 13 | Nov 24, 2020 |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness | 1 | Nov 24, 2020 |
| Familial temporal lobe epilepsy 7 | 11 | Nov 24, 2020 |
| Familial temporal lobe epilepsy 8 | 1 | Nov 24, 2020 |
| Fanconi anemia complementation group A | 1 | Nov 24, 2020 |
| Fanconi anemia complementation group C | 1 | Nov 24, 2020 |
| Fanconi anemia complementation group E | 1 | Nov 24, 2020 |
| Fanconi anemia complementation group J | 7 | Nov 24, 2020 |
| Fanconi anemia complementation group O | 3 | Nov 24, 2020 |
| Fanconi anemia complementation group P | 1 | Nov 24, 2020 |
| Fanconi anemia complementation group Q | 1 | Nov 24, 2020 |
| Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 2 | Nov 24, 2020 |
| Fatigue | 2 | Dec 8, 2017 |
| Fatty replacement of skeletal muscle | 4 | Dec 8, 2017 |
| Febrile seizure (within the age range of 3 months to 6 years) | 6 | Dec 8, 2017 |
| Feeding difficulties | 8 | Dec 8, 2017 |
| Feeding difficulties in infancy | 1 | Nov 12, 2016 |
| Female external genitalia in individual with 46,XY karyotype | 1 | Dec 8, 2017 |
| Female infertility | 1 | Nov 12, 2016 |
| Femoral bowing | 4 | Dec 8, 2017 |
| Fetal akinesia deformation sequence 1 | 2 | Nov 24, 2020 |
| Fetal akinesia deformation sequence 3 | 1 | Nov 24, 2020 |
| Fetal growth restriction | 8 | Dec 8, 2017 |
| Fetal megacystis | 1 | Nov 12, 2016 |
| Fever | 2 | Nov 12, 2016 |
| Fibromatosis, gingival, 1 | 8 | Nov 24, 2020 |
| Finger syndactyly | 4 | Dec 8, 2017 |
| Finnish congenital nephrotic syndrome | 5 | Nov 24, 2020 |
| Flat occiput | 2 | Dec 8, 2017 |
| Flexion contracture | 3 | Dec 8, 2017 |
| Floating-Harbor syndrome | 1 | Nov 24, 2020 |
| Focal T2 hyperintense basal ganglia lesion | 1 | Dec 8, 2017 |
| Focal segmental glomerulosclerosis | 3 | Dec 8, 2017 |
| Focal segmental glomerulosclerosis 1 | 1 | Nov 24, 2020 |
| Focal segmental glomerulosclerosis 3, susceptibility to | 1 | Nov 24, 2020 |
| Focal white matter lesions | 2 | Nov 12, 2016 |
| Focal-onset seizure | 4 | Dec 8, 2017 |
| Fontaine progeroid syndrome | 2 | Dec 23, 2016 |
| Foot dorsiflexor weakness | 5 | Dec 8, 2017 |
| Foot polydactyly | 1 | Dec 8, 2017 |
| Foveal hypoplasia | 4 | Dec 8, 2017 |
| Fractures of the long bones | 1 | Dec 8, 2017 |
| Fragile X syndrome | 1 | Nov 24, 2020 |
| Fragile skin | 1 | Nov 12, 2016 |
| Fraser syndrome 1 | 1 | Nov 24, 2020 |
| Fraser syndrome 2 | 1 | Nov 24, 2020 |
| Fraser syndrome 3 | 1 | Nov 24, 2020 |
| Frontal bossing | 1 | Dec 8, 2017 |
| Frontal cortical atrophy | 1 | Dec 8, 2017 |
| Frontoparietal polymicrogyria | 1 | Dec 8, 2017 |
| Frontotemporal cerebral atrophy | 1 | Nov 12, 2016 |
| Frontotemporal dementia | 3 | Nov 24, 2020 |
| Fumarase deficiency | 3 | Nov 24, 2020 |
| GAPO syndrome | 1 | Nov 24, 2020 |
| GM1 gangliosidosis type 3 | 1 | Nov 24, 2020 |
| GNE myopathy | 1 | Nov 24, 2020 |
| Gabriele de Vries syndrome | 1 | Nov 24, 2020 |
| Gait ataxia | 11 | Dec 8, 2017 |
| Gait disturbance | 7 | Dec 8, 2017 |
| Gait imbalance | 6 | Dec 8, 2017 |
| Galactosylceramide beta-galactosidase deficiency | 6 | Nov 24, 2020 |
| Gamma-glutamylcysteine synthetase deficiency | 1 | Nov 24, 2020 |
| Gastric polyposis | 1 | Dec 8, 2017 |
| Gastroesophageal reflux | 9 | Dec 8, 2017 |
| Gastrointestinal carcinoma | 2 | Dec 8, 2017 |
| Gastrointestinal stromal tumor | 1 | Nov 12, 2016 |
| Gaucher disease perinatal lethal | 9 | Nov 24, 2020 |
| Gaze palsy, familial horizontal, with progressive scoliosis, 2 | 1 | Nov 24, 2020 |
| Geleophysic dysplasia 1 | 3 | Nov 24, 2020 |
| Generalized dystonia | 1 | Nov 12, 2016 |
| Generalized epilepsy with febrile seizures plus, type 9 | 1 | Nov 24, 2020 |
| Generalized epilepsy-paroxysmal dyskinesia syndrome | 5 | Nov 24, 2020 |
| Generalized hyperreflexia | 2 | Nov 12, 2016 |
| Generalized hypopigmentation | 1 | Nov 12, 2016 |
| Generalized hypotonia | 32 | Dec 8, 2017 |
| Generalized joint hypermobility | 3 | Dec 8, 2017 |
| Generalized muscle weakness | 2 | Nov 12, 2016 |
| Generalized myoclonic seizure | 2 | Nov 12, 2016 |
| Generalized neonatal hypotonia | 2 | Dec 8, 2017 |
| Generalized non-motor (absence) seizure | 4 | Dec 8, 2017 |
| Generalized-onset seizure | 1 | Dec 8, 2017 |
| Genu valgum | 2 | Dec 8, 2017 |
| Genu varum | 2 | Dec 8, 2017 |
| Geroderma osteodysplastica | 1 | Nov 24, 2020 |
| Giant axonal neuropathy 2 | 1 | Nov 24, 2020 |
| Gillespie syndrome | 2 | Nov 24, 2020 |
| Gingival overgrowth | 1 | Nov 12, 2016 |
| Glabellar hemangioma | 2 | Nov 12, 2016 |
| Glaucoma | 2 | Nov 12, 2016 |
| Glaucoma 1, open angle, A | 1 | Nov 24, 2020 |
| Glaucoma 3, primary congenital, E | 2 | Nov 24, 2020 |
| Glaucoma 3, primary infantile, B | 2 | Nov 24, 2020 |
| Glaucoma 3A | 2 | Nov 24, 2020 |
| Glaucoma, primary closed-angle | 4 | Nov 24, 2020 |
| Global brain atrophy | 2 | Dec 8, 2017 |
| Global developmental delay | 108 | May 21, 2020 |
| Glomerulopathy | 1 | Nov 12, 2016 |
| Glomuvenous malformation | 1 | Nov 24, 2020 |
| Glucocorticoid deficiency 4 | 3 | Nov 24, 2020 |
| Glucocorticoid deficiency with achalasia | 1 | Nov 24, 2020 |
| Glucocorticoid-remediable aldosteronism | 3 | Nov 24, 2020 |
| Glucose intolerance | 1 | Dec 8, 2017 |
| Glutaric aciduria, type 1 | 2 | Nov 24, 2020 |
| Glycogen storage disease IXa1 | 2 | Nov 24, 2020 |
| Glycogen storage disease IXb | 1 | Nov 24, 2020 |
| Glycogen storage disease IXd | 2 | Nov 24, 2020 |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2 | Nov 12, 2016 |
| Glycogen storage disease due to muscle beta-enolase deficiency | 1 | Nov 24, 2020 |
| Glycogen storage disease, type II | 4 | Nov 24, 2020 |
| Glycogen storage disease, type IV | 3 | Nov 24, 2020 |
| Glycogen storage disease, type VI | 1 | Nov 24, 2020 |
| Gnathodiaphyseal dysplasia | 6 | Nov 24, 2020 |
| Gonadotropin-independent familial sexual precocity | 1 | Nov 24, 2020 |
| Gout | 2 | Dec 8, 2017 |
| Growth delay | 10 | Dec 8, 2017 |
| Growth delay due to insulin-like growth factor I resistance | 1 | Nov 24, 2020 |
| Gynecomastia | 1 | Dec 8, 2017 |
| Hamartoma | 2 | Nov 12, 2016 |
| Hammertoe | 5 | Nov 12, 2016 |
| Hand muscle atrophy | 2 | Nov 12, 2016 |
| Hand oligodactyly | 1 | Nov 12, 2016 |
| Hand tremor | 8 | Dec 8, 2017 |
| Handgrip myotonia | 1 | Nov 12, 2016 |
| Harel-Yoon syndrome | 1 | Nov 24, 2020 |
| Headache | 8 | Apr 8, 2020 |
| Hearing abnormality | 1 | Dec 8, 2017 |
| Hearing impairment | 29 | Dec 8, 2017 |
| Hearing loss | 1 | May 21, 2020 |
| Hearing loss, autosomal recessive 57 | 1 | Nov 24, 2020 |
| Heart block | 1 | Dec 8, 2017 |
| Heart disease | 2 | Nov 12, 2016 |
| Heart, malformation of | 1 | Dec 8, 2017 |
| Hemangioma | 3 | Dec 8, 2017 |
| Hematuria | 9 | Apr 8, 2020 |
| Hemihypertrophy | 2 | Nov 12, 2016 |
| Hemimegalencephaly | 2 | Dec 8, 2017 |
| Hemiparesis | 4 | Apr 8, 2020 |
| Hemiplegia | 7 | Dec 8, 2017 |
| Hemivertebrae | 2 | Dec 8, 2017 |
| Hemochromatosis type 1 | 1 | Nov 24, 2020 |
| Hemolytic anemia | 2 | Dec 8, 2017 |
| Hennekam lymphangiectasia-lymphedema syndrome 2 | 2 | Nov 24, 2020 |
| Heparin cofactor II deficiency | 1 | Nov 24, 2020 |
| Hepatic cysts | 3 | Dec 8, 2017 |
| Hepatic steatosis | 3 | Dec 8, 2017 |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 3 | Nov 24, 2020 |
| Hepatomegaly | 2 | Dec 8, 2017 |
| Hepatosplenomegaly | 3 | Dec 8, 2017 |
| Hereditary cancer | 5 | Nov 12, 2016 |
| Hereditary factor VIII deficiency disease | 2 | Nov 24, 2020 |
| Hereditary fructosuria | 1 | Nov 24, 2020 |
| Hereditary hearing loss and deafness | 1 | Nov 16, 2017 |
| Hereditary insensitivity to pain with anhidrosis | 1 | Nov 24, 2020 |
| Hereditary leiomyomatosis and renal cell cancer | 1 | Dec 8, 2017 |
| Hereditary lymphedema type I | 3 | Nov 24, 2020 |
| Hereditary motor and sensory neuropathy with optic atrophy | 6 | Nov 24, 2020 |
| Hereditary nonpolyposis colorectal carcinoma | 1 | Dec 8, 2017 |
| Hereditary palmoplantar keratoderma | 2 | Nov 12, 2016 |
| Hereditary pancreatitis | 6 | Nov 24, 2020 |
| Hereditary sensory and autonomic neuropathy with spastic paraplegia | 1 | Nov 24, 2020 |
| Hereditary spastic paraplegia 11 | 9 | Nov 24, 2020 |
| Hereditary spastic paraplegia 15 | 2 | Nov 24, 2020 |
| Hereditary spastic paraplegia 26 | 1 | Nov 24, 2020 |
| Hereditary spastic paraplegia 33 | 2 | Nov 24, 2020 |
| Hereditary spastic paraplegia 4 | 7 | Nov 24, 2020 |
| Hereditary spastic paraplegia 42 | 1 | Nov 24, 2020 |
| Hereditary spastic paraplegia 44 | 1 | Nov 24, 2020 |
| Hereditary spastic paraplegia 47 | 3 | Nov 24, 2020 |
| Hereditary spastic paraplegia 54 | 1 | Nov 24, 2020 |
| Hereditary spastic paraplegia 55 | 1 | Nov 24, 2020 |
| Hereditary spastic paraplegia 5A | 1 | Nov 24, 2020 |
| Hereditary spastic paraplegia 6 | 3 | Nov 24, 2020 |
| Hereditary spastic paraplegia 7 | 4 | Nov 24, 2020 |
| Hereditary spherocytosis type 1 | 3 | Nov 24, 2020 |
| Hereditary spherocytosis type 3 | 4 | Nov 24, 2020 |
| Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 1 | Nov 24, 2020 |
| Hermansky-Pudlak syndrome 1 | 1 | Nov 24, 2020 |
| Hermansky-Pudlak syndrome 3 | 1 | Nov 24, 2020 |
| Heterochromia iridis | 1 | Nov 12, 2016 |
| Heterotaxy, visceral, 8, autosomal | 2 | Nov 24, 2020 |
| Heterotopia, periventricular, X-linked dominant | 1 | May 17, 2021 |
| High anterior hairline | 1 | Nov 12, 2016 |
| High forehead | 5 | Dec 8, 2017 |
| High myopia | 6 | Nov 12, 2016 |
| High palate | 15 | Dec 8, 2017 |
| High pitched voice | 1 | Nov 12, 2016 |
| High, narrow palate | 1 | Nov 12, 2016 |
| High-frequency hearing impairment | 1 | Dec 8, 2017 |
| Hip contracture | 1 | Apr 8, 2020 |
| Hip flexor weakness | 1 | Dec 8, 2017 |
| Hirschsprung disease, susceptibility to, 3 | 2 | Nov 24, 2020 |
| Hirsutism | 3 | Dec 8, 2017 |
| Holoprosencephaly 11 | 4 | Nov 24, 2020 |
| Holoprosencephaly 5 | 3 | Nov 24, 2020 |
| Holoprosencephaly 9 | 4 | Nov 24, 2020 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 3 | Nov 24, 2020 |
| Horizontal nystagmus | 9 | Dec 8, 2017 |
| Horseshoe kidney | 2 | Apr 8, 2020 |
| Houge-Janssens syndrome 2 | 1 | Nov 24, 2020 |
| Hydrocele testis | 1 | Dec 8, 2017 |
| Hydrocephalus | 3 | Dec 8, 2017 |
| Hydrocephalus, congenital, 3, with brain anomalies | 1 | Nov 24, 2020 |
| Hydrocephalus, nonsyndromic, autosomal recessive 1 | 1 | Nov 24, 2020 |
| Hydrolethalus syndrome 2 | 2 | Nov 24, 2020 |
| Hydronephrosis | 1 | Dec 8, 2017 |
| Hydrops fetalis | 1 | Dec 8, 2017 |
| Hyperactivity | 6 | Dec 8, 2017 |
| Hyperammonemia | 4 | Dec 8, 2017 |
| Hyperammonemia, type III | 1 | Nov 24, 2020 |
| Hyperbilirubinemia | 1 | Nov 12, 2016 |
| Hypercalcemia | 1 | Nov 12, 2016 |
| Hypercalcemia, infantile, 1 | 1 | Nov 24, 2020 |
| Hypercholesterolemia, familial, 1 | 2 | Nov 24, 2020 |
| Hyperechogenic kidneys | 5 | Dec 8, 2017 |
| Hyperekplexia 1 | 2 | Nov 24, 2020 |
| Hyperextensibility at elbow | 3 | Apr 8, 2020 |
| Hyperextensibility of the finger joints | 2 | Dec 8, 2017 |
| Hyperextensible hand joints | 5 | Apr 8, 2020 |
| Hyperextensible skin | 4 | Dec 8, 2017 |
| Hyperglycemia | 1 | Dec 8, 2017 |
| Hyperimmunoglobulin D with periodic fever | 1 | Nov 24, 2020 |
| Hyperinsulinemia | 1 | Nov 12, 2016 |
| Hyperinsulinism-hyperammonemia syndrome | 1 | Nov 24, 2020 |
| Hyperkalemia | 3 | Dec 8, 2017 |
| Hyperkalemic periodic paralysis | 7 | Nov 24, 2020 |
| Hyperlipidemia | 3 | Dec 8, 2017 |
| Hyperlipidemia due to hepatic triglyceride lipase deficiency | 1 | Nov 24, 2020 |
| Hyperlipidemia, familial combined, LPL related | 1 | Nov 24, 2020 |
| Hypermagnesemia | 2 | Dec 8, 2017 |
| Hypermetropia | 4 | Dec 8, 2017 |
| Hypernasal speech | 1 | Dec 8, 2017 |
| Hyperparathyroidism 1 | 1 | Nov 24, 2020 |
| Hyperphosphatasia with intellectual disability syndrome 2 | 1 | Nov 24, 2020 |
| Hyperphosphatasia with intellectual disability syndrome 3 | 1 | Nov 24, 2020 |
| Hyperpigmentation of the skin | 3 | Nov 12, 2016 |
| Hyperplasia of midface | 1 | Dec 8, 2017 |
| Hyperplastic colonic polyposis | 1 | Dec 8, 2017 |
| Hyperreflexia | 3 | Dec 8, 2017 |
| Hypertelorism | 20 | Dec 8, 2017 |
| Hypertensive disorder | 19 | Dec 8, 2017 |
| Hypertonia | 5 | Dec 8, 2017 |
| Hypertrichosis | 7 | Dec 8, 2017 |
| Hypertrophic cardiomyopathy | 21 | May 20, 2021 |
| Hypertrophic cardiomyopathy 1 | 1 | Nov 24, 2020 |
| Hypertrophic cardiomyopathy 12 | 1 | Nov 24, 2020 |
| Hypertrophic cardiomyopathy 14 | 2 | Nov 24, 2020 |
| Hypertrophic cardiomyopathy 18 | 1 | Nov 24, 2020 |
| Hypertrophic cardiomyopathy 26 | 12 | Nov 24, 2020 |
| Hypertrophic cardiomyopathy 4 | 12 | Nov 24, 2020 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | 1 | Nov 24, 2020 |
| Hypocalcemia | 1 | Nov 12, 2016 |
| Hypocalciuria | 1 | Nov 12, 2016 |
| Hypoglycemia | 6 | Dec 8, 2017 |
| Hypoglycemic encephalopathy | 1 | Nov 12, 2016 |
| Hypogonadotropic hypogonadism 11 with or without anosmia | 1 | Nov 24, 2020 |
| Hypogonadotropic hypogonadism 15 with or without anosmia | 1 | Nov 24, 2020 |
| Hypogonadotropic hypogonadism 19 with or without anosmia | 1 | Nov 24, 2020 |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 1 | Nov 24, 2020 |
| Hypogonadotropic hypogonadism 4 with or without anosmia | 1 | Nov 24, 2020 |
| Hypogonadotropic hypogonadism 6 with or without anosmia | 1 | Nov 24, 2020 |
| Hypogonadotropic hypogonadism 7 with or without anosmia | 6 | Nov 24, 2020 |
| Hypogonadotropic hypogonadism 9 with or without anosmia | 1 | Nov 24, 2020 |
| Hypointensity of cerebral white matter on MRI | 1 | Dec 8, 2017 |
| Hypokalemia | 2 | Dec 8, 2017 |
| Hypomagnesemia, seizures, and intellectual disability 2 | 2 | Nov 24, 2020 |
| Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism | 1 | Nov 24, 2020 |
| Hypomimic face | 2 | Dec 8, 2017 |
| Hypomyelinating leukodystrophy 11 | 1 | Nov 24, 2020 |
| Hypomyelinating leukodystrophy 4 | 1 | Nov 24, 2020 |
| Hypomyelinating leukodystrophy 6 | 3 | Nov 24, 2020 |
| Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | 2 | Nov 24, 2020 |
| Hypomyelinating leukodystrophy 9 | 1 | Nov 24, 2020 |
| Hypoparathyroidism, deafness, renal disease syndrome | 1 | Nov 24, 2020 |
| Hypophosphatemic rickets | 1 | Nov 12, 2016 |
| Hypophosphatemic rickets, autosomal recessive, 1 | 1 | Nov 24, 2020 |
| Hypophosphatemic rickets, autosomal recessive, 2 | 1 | Nov 24, 2020 |
| Hypopigmentation of hair | 1 | Dec 8, 2017 |
| Hypopigmentation of the skin | 3 | Dec 8, 2017 |
| Hypopigmentation, organomegaly, and delayed myelination and development | 1 | Nov 24, 2020 |
| Hypoplasia of penis | 1 | Dec 8, 2017 |
| Hypoplasia of scrotum | 5 | Dec 8, 2017 |
| Hypoplasia of the brainstem | 2 | Dec 8, 2017 |
| Hypoplasia of the corpus callosum | 10 | Dec 8, 2017 |
| Hypoplasia of the maxilla | 3 | Dec 8, 2017 |
| Hypoplastic acetabulae | 1 | Nov 12, 2016 |
| Hypoplastic enamel-onycholysis-hypohidrosis syndrome | 1 | Nov 24, 2020 |
| Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 3 | Nov 24, 2020 |
| Hypotelorism | 3 | Dec 8, 2017 |
| Hypotension | 1 | Dec 8, 2017 |
| Hypothyroidism | 6 | Dec 8, 2017 |
| Hypotonia | 18 | Apr 8, 2020 |
| Hypotonia with lactic acidemia and hyperammonemia | 1 | Nov 24, 2020 |
| Hypotonia, ataxia, and delayed development syndrome | 1 | Nov 24, 2020 |
| Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | 1 | Nov 24, 2020 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 2 | Nov 24, 2020 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 1 | Nov 24, 2020 |
| IFAP syndrome 1, with or without BRESHECK syndrome | 2 | Nov 24, 2020 |
| Ichthyosis | 7 | Dec 8, 2017 |
| Ichthyosis vulgaris | 2 | Nov 24, 2020 |
| Idiopathic basal ganglia calcification 1 | 2 | Nov 24, 2020 |
| Idiopathic hypereosinophilic syndrome | 1 | Nov 24, 2020 |
| Iminoglycinuria | 1 | Nov 24, 2020 |
| Immunodeficiency | 2 | Nov 12, 2016 |
| Immunodeficiency 14 | 1 | Nov 24, 2020 |
| Immunodeficiency 31B | 1 | Nov 24, 2020 |
| Immunodeficiency 36 | 2 | Nov 24, 2020 |
| Immunodeficiency 47 | 1 | Nov 24, 2020 |
| Immunodeficiency, common variable, 2 | 2 | Nov 24, 2020 |
| Immunoglobulin A deficiency 2 | 1 | Nov 24, 2020 |
| Immunoglobulin-mediated membranoproliferative glomerulonephritis | 1 | Nov 24, 2020 |
| Impaired gluconeogenesis | 1 | Dec 8, 2017 |
| Impaired vibration sensation in the lower limbs | 6 | Dec 8, 2017 |
| Imperforate anus | 2 | Dec 8, 2017 |
| Inability to walk | 6 | Dec 8, 2017 |
| Inability to walk by childhood/adolescence | 2 | Dec 8, 2017 |
| Inborn mitochondrial myopathy | 1 | Dec 8, 2017 |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | 2 | Nov 24, 2020 |
| Incomprehensible speech | 1 | Dec 8, 2017 |
| Incontinentia pigmenti syndrome | 1 | Nov 24, 2020 |
| Increased CSF lactate | 2 | Dec 8, 2017 |
| Increased body weight | 1 | Nov 12, 2016 |
| Increased circulating IgE level | 2 | Nov 12, 2016 |
| Increased mean platelet volume | 2 | Dec 8, 2017 |
| Increased muscle glycogen content | 1 | Nov 12, 2016 |
| Increased pulmonary vascular resistance | 1 | Nov 12, 2016 |
| Increased serum pyruvate | 2 | Dec 8, 2017 |
| Increased susceptibility to fractures | 1 | Nov 12, 2016 |
| Infantile axial hypotonia | 2 | Dec 8, 2017 |
| Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | 1 | Nov 24, 2020 |
| Infantile convulsions and choreoathetosis | 5 | Nov 24, 2020 |
| Infantile muscular hypotonia | 5 | Dec 8, 2017 |
| Infantile onset | 1 | Nov 12, 2016 |
| Infantile spasms | 3 | Dec 8, 2017 |
| Infantile-onset X-linked spinal muscular atrophy | 2 | Nov 24, 2020 |
| Infertility disorder | 1 | Dec 8, 2017 |
| Inflammatory bowel disease 25 | 1 | Nov 24, 2020 |
| Inguinal freckling | 3 | Dec 8, 2017 |
| Inguinal hernia | 4 | Dec 8, 2017 |
| Insulin resistance | 2 | Dec 8, 2017 |
| Intellectual developmental disorder 61 | 1 | Nov 24, 2020 |
| Intellectual developmental disorder with autism and macrocephaly | 5 | Nov 24, 2020 |
| Intellectual developmental disorder with dysmorphic facies and ptosis | 1 | Nov 24, 2020 |
| Intellectual developmental disorder with severe speech and ambulation defects | 1 | Nov 24, 2020 |
| Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | 1 | Nov 24, 2020 |
| Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 2 | Nov 24, 2020 |
| Intellectual developmental disorder, autosomal recessive 67 | 1 | Nov 24, 2020 |
| Intellectual disability | 33 | Dec 8, 2017 |
| Intellectual disability, FRA12A type | 1 | Nov 24, 2020 |
| Intellectual disability, X-linked 1 | 5 | Nov 24, 2020 |
| Intellectual disability, X-linked 102 | 3 | Nov 24, 2020 |
| Intellectual disability, X-linked 104 | 1 | Nov 24, 2020 |
| Intellectual disability, X-linked 105 | 1 | Nov 24, 2020 |
| Intellectual disability, X-linked 106 | 1 | Nov 24, 2020 |
| Intellectual disability, X-linked 19 | 2 | Nov 24, 2020 |
| Intellectual disability, X-linked 41 | 1 | Nov 24, 2020 |
| Intellectual disability, X-linked 63 | 1 | Nov 24, 2020 |
| Intellectual disability, X-linked 72 | 2 | Nov 24, 2020 |
| Intellectual disability, X-linked 90 | 1 | Nov 24, 2020 |
| Intellectual disability, X-linked 97 | 1 | Nov 24, 2020 |
| Intellectual disability, X-linked 99 | 2 | Nov 24, 2020 |
| Intellectual disability, X-linked, syndromic 33 | 3 | Nov 24, 2020 |
| Intellectual disability, X-linked, syndromic, 35 | 1 | Nov 24, 2020 |
| Intellectual disability, X-linked, syndromic, Houge type | 2 | Nov 24, 2020 |
| Intellectual disability, X-linked, with or without seizures, arx-related | 1 | Nov 24, 2020 |
| Intellectual disability, autosomal dominant 1 | 3 | Nov 24, 2020 |
| Intellectual disability, autosomal dominant 10 | 1 | Nov 24, 2020 |
| Intellectual disability, autosomal dominant 11 | 1 | Nov 24, 2020 |
| Intellectual disability, autosomal dominant 14 | 2 | Nov 24, 2020 |
| Intellectual disability, autosomal dominant 20 | 1 | Nov 24, 2020 |
| Intellectual disability, autosomal dominant 29 | 4 | Nov 24, 2020 |
| Intellectual disability, autosomal dominant 30 | 2 | Nov 24, 2020 |
| Intellectual disability, autosomal dominant 33 | 1 | Nov 24, 2020 |
| Intellectual disability, autosomal dominant 38 | 1 | Nov 24, 2020 |
| Intellectual disability, autosomal dominant 39 | 1 | Nov 24, 2020 |
| Intellectual disability, autosomal dominant 40 | 2 | Nov 24, 2020 |
| Intellectual disability, autosomal dominant 43 | 5 | Nov 24, 2020 |
| Intellectual disability, autosomal dominant 45 | 7 | Nov 24, 2020 |
| Intellectual disability, autosomal dominant 46 | 3 | Nov 24, 2020 |
| Intellectual disability, autosomal dominant 5 | 6 | Nov 24, 2020 |
| Intellectual disability, autosomal dominant 50 | 2 | Nov 24, 2020 |
| Intellectual disability, autosomal dominant 56 | 1 | Nov 24, 2020 |
| Intellectual disability, autosomal dominant 58 | 1 | Nov 24, 2020 |
| Intellectual disability, autosomal dominant 6 | 3 | Nov 24, 2020 |
| Intellectual disability, autosomal recessive 3 | 2 | Nov 24, 2020 |
| Intellectual disability, autosomal recessive 61 | 1 | Nov 24, 2020 |
| Intellectual disability, autosomal recessive 66 | 1 | Nov 24, 2020 |
| Intellectual disability, autosomal recessive 7 | 1 | Nov 24, 2020 |
| Intellectual disability, mild | 9 | Apr 8, 2020 |
| Intellectual disability, moderate | 6 | Dec 8, 2017 |
| Intellectual disability, profound | 1 | Nov 12, 2016 |
| Intellectual disability, severe | 14 | Dec 8, 2017 |
| Intellectual disability-epilepsy-extrapyramidal syndrome | 2 | Nov 24, 2020 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 1 | Nov 24, 2020 |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 5 | Nov 24, 2020 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 2 | Nov 24, 2020 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 3 | Nov 24, 2020 |
| Intention tremor | 1 | Nov 12, 2016 |
| Intermittent diarrhea | 1 | Nov 12, 2016 |
| Interosseus muscle atrophy | 1 | Dec 8, 2017 |
| Intestinal polyp | 1 | Dec 8, 2017 |
| Intestinal polyposis | 1 | Nov 12, 2016 |
| Intracerebral periventricular calcifications | 1 | Dec 8, 2017 |
| Intrahepatic cholestasis | 1 | Nov 12, 2016 |
| Iris coloboma | 3 | Dec 8, 2017 |
| Iris transillumination defect | 1 | Dec 8, 2017 |
| Irregular respiration | 1 | Dec 8, 2017 |
| Ischemic stroke | 4 | Dec 8, 2017 |
| Isolated agenesis of gallbladder | 1 | Dec 8, 2017 |
| Isolated congenital digital clubbing | 1 | Nov 24, 2020 |
| Isolated focal cortical dysplasia type II | 4 | Nov 24, 2020 |
| Isolated focal non-epidermolytic palmoplantar keratoderma | 1 | Nov 24, 2020 |
| Isolated microphthalmia 6 | 1 | Nov 24, 2020 |
| Isovaleryl-CoA dehydrogenase deficiency | 1 | Nov 24, 2020 |
| Jaundice | 6 | Nov 12, 2016 |
| Jawad syndrome | 2 | Nov 24, 2020 |
| Jervell and Lange-Nielsen syndrome 2 | 1 | Nov 24, 2020 |
| Joint contracture of the hand | 1 | Dec 8, 2017 |
| Joint dislocation | 1 | Nov 12, 2016 |
| Joint hyperflexibility | 1 | Nov 12, 2016 |
| Joint hypermobility | 21 | Apr 8, 2020 |
| Joint laxity | 5 | Dec 8, 2017 |
| Joubert syndrome 1 | 4 | Nov 24, 2020 |
| Joubert syndrome 21 | 1 | Nov 24, 2020 |
| Joubert syndrome 23 | 2 | Nov 24, 2020 |
| Joubert syndrome 5 | 17 | Nov 24, 2020 |
| Joubert syndrome 7 | 5 | Nov 24, 2020 |
| Joubert syndrome 9 | 5 | Nov 24, 2020 |
| Juvenile cataract-microcornea-renal glucosuria syndrome | 1 | Nov 24, 2020 |
| Juvenile osteochondrosis of spine | 1 | Dec 8, 2017 |
| Juvenile retinoschisis | 3 | Nov 24, 2020 |
| KBG syndrome | 9 | Nov 24, 2020 |
| Kabuki syndrome 1 | 13 | Nov 24, 2020 |
| Kabuki syndrome 2 | 1 | Nov 24, 2020 |
| Kayser-Fleischer ring | 1 | Nov 12, 2016 |
| Keratosis palmoplantaris striata 2 | 8 | Nov 24, 2020 |
| Kidney angiomyolipoma | 1 | Dec 8, 2017 |
| Kidney damage | 3 | Dec 8, 2017 |
| Kleefstra syndrome 1 | 6 | Nov 24, 2020 |
| Kleefstra syndrome 2 | 3 | Nov 24, 2020 |
| Knee flexion contracture | 1 | Apr 8, 2020 |
| Koolen-de Vries syndrome | 2 | Nov 24, 2020 |
| Kyphoscoliosis | 1 | Dec 8, 2017 |
| Kyphosis | 1 | Nov 12, 2016 |
| L-2-hydroxyglutaric aciduria | 1 | Nov 24, 2020 |
| LEOPARD syndrome 1 | 9 | Nov 24, 2020 |
| LEOPARD syndrome 2 | 2 | Nov 24, 2020 |
| Lactic acidosis | 2 | Dec 8, 2017 |
| Lafora disease | 1 | Nov 24, 2020 |
| Lamb-Shaffer syndrome | 1 | Nov 24, 2020 |
| Landau-Kleffner syndrome | 5 | Nov 24, 2020 |
| Language disorder | 1 | Nov 12, 2016 |
| Large cafe-au-lait macules with irregular margins | 1 | Dec 8, 2017 |
| Large fleshy ears | 1 | Dec 8, 2017 |
| Large fontanelles | 1 | Dec 8, 2017 |
| Large for gestational age | 4 | Dec 8, 2017 |
| Large joint dislocations | 1 | Dec 8, 2017 |
| Laryngeal cleft | 2 | Dec 8, 2017 |
| Late-onset muscular dystrophy | 1 | Dec 8, 2017 |
| Lateral ventricle dilatation | 2 | Dec 8, 2017 |
| Leber congenital amaurosis 11 | 5 | Nov 24, 2020 |
| Leber congenital amaurosis 13 | 3 | Nov 24, 2020 |
| Leber congenital amaurosis 15 | 4 | Nov 24, 2020 |
| Leber congenital amaurosis 3 | 1 | Nov 24, 2020 |
| Leber congenital amaurosis 5 | 1 | Nov 24, 2020 |
| Leber congenital amaurosis 6 | 1 | Nov 24, 2020 |
| Leber congenital amaurosis 9 | 1 | Nov 24, 2020 |
| Leber congenital amaurosis with early-onset deafness | 1 | Nov 24, 2020 |
| Left ventricular hypertrophy | 2 | Dec 8, 2017 |
| Left ventricular noncompaction 1 | 2 | Nov 24, 2020 |
| Left ventricular noncompaction 8 | 3 | Nov 24, 2020 |
| Left ventricular noncompaction cardiomyopathy | 2 | Dec 8, 2017 |
| Legg-Calve-Perthes disease | 1 | Dec 8, 2017 |
| Legius syndrome | 1 | Nov 24, 2020 |
| Leigh syndrome | 5 | Nov 24, 2020 |
| Lens subluxation | 3 | Dec 8, 2017 |
| Lenz-Majewski hyperostosis syndrome | 1 | Nov 24, 2020 |
| Leprechaunism syndrome | 1 | Nov 24, 2020 |
| Lesch-Nyhan syndrome | 1 | Nov 24, 2020 |
| Lethal Kniest-like syndrome | 5 | Nov 24, 2020 |
| Lethal congenital contracture syndrome 8 | 1 | Nov 24, 2020 |
| Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | 1 | Nov 24, 2020 |
| Lethal osteosclerotic bone dysplasia | 1 | Nov 24, 2020 |
| Lethal short-limbed short stature | 1 | Nov 12, 2016 |
| Leukocyte adhesion deficiency 1 | 1 | Nov 24, 2020 |
| Leukodystrophy | 9 | Dec 8, 2017 |
| Leukodystrophy, hypomyelinating, 14 | 1 | Nov 24, 2020 |
| Leukoencephalopathy | 2 | Dec 8, 2017 |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 2 | Nov 24, 2020 |
| Leukopenia | 2 | Dec 8, 2017 |
| Levy-Hollister syndrome | 1 | Nov 24, 2020 |
| Limb muscle weakness | 1 | Nov 12, 2016 |
| Limb pain | 6 | Dec 8, 2017 |
| Limb tremor | 1 | Dec 8, 2017 |
| Limb undergrowth | 3 | Nov 12, 2016 |
| Limb-girdle muscle atrophy | 1 | Nov 12, 2016 |
| Limb-girdle muscle weakness | 5 | Dec 8, 2017 |
| Limb-girdle muscular dystrophy | 2 | Nov 12, 2016 |
| Limb-mammary syndrome | 1 | Nov 24, 2020 |
| Lip telangiectasia | 1 | Dec 8, 2017 |
| Lipid proteinosis | 1 | Nov 24, 2020 |
| Lipoic acid synthetase deficiency | 2 | Nov 24, 2020 |
| Lisch nodules | 2 | Dec 8, 2017 |
| Lissencephaly | 4 | Dec 8, 2017 |
| Lissencephaly 4 | 2 | Nov 24, 2020 |
| Lissencephaly 9 with complex brainstem malformation | 5 | Nov 24, 2020 |
| Lissencephaly due to LIS1 mutation | 3 | Nov 24, 2020 |
| Lissencephaly due to TUBA1A mutation | 1 | Nov 24, 2020 |
| Loeys-Dietz syndrome 4 | 1 | Nov 24, 2020 |
| Long QT syndrome 1 | 3 | Nov 24, 2020 |
| Long QT syndrome 11 | 2 | Nov 24, 2020 |
| Long QT syndrome 12 | 1 | Nov 24, 2020 |
| Long QT syndrome 6 | 1 | Nov 24, 2020 |
| Long face | 3 | Dec 8, 2017 |
| Long fingers | 1 | Nov 12, 2016 |
| Long palpebral fissure | 1 | Dec 8, 2017 |
| Long philtrum | 4 | Dec 8, 2017 |
| Loss of ambulation | 5 | Dec 8, 2017 |
| Loss of consciousness | 1 | Dec 8, 2017 |
| Low anterior hairline | 1 | Nov 12, 2016 |
| Low posterior hairline | 1 | Nov 12, 2016 |
| Low-molecular-weight proteinuria | 1 | Dec 8, 2017 |
| Low-output congestive heart failure | 1 | Dec 8, 2017 |
| Low-set ears | 12 | Dec 8, 2017 |
| Low-set, posteriorly rotated ears | 4 | Dec 8, 2017 |
| Lower limb amyotrophy | 4 | Dec 8, 2017 |
| Lower limb hyperreflexia | 1 | Nov 12, 2016 |
| Lower limb muscle weakness | 8 | Dec 8, 2017 |
| Lower limb pain | 2 | Dec 8, 2017 |
| Lower limb undergrowth | 1 | Nov 12, 2016 |
| Lower-limb joint contracture | 3 | Dec 8, 2017 |
| Lumbar hyperlordosis | 3 | Dec 8, 2017 |
| Lumbar scoliosis | 1 | Dec 8, 2017 |
| Luscan-Lumish syndrome | 4 | Nov 24, 2020 |
| Lymphangiomyomatosis | 23 | Nov 24, 2020 |
| Lymphoma, non-Hodgkin, familial | 1 | Nov 24, 2020 |
| Lynch syndrome 1 | 4 | Feb 23, 2023 |
| Lynch syndrome 4 | 7 | Feb 23, 2023 |
| Lynch syndrome 5 | 5 | Feb 23, 2023 |
| Lysosomal acid lipase deficiency | 1 | Nov 24, 2020 |
| MEGF10-related myopathy | 1 | Nov 24, 2020 |
| MEGF8-related Carpenter syndrome | 1 | Nov 24, 2020 |
| MPDU1-congenital disorder of glycosylation | 1 | Nov 24, 2020 |
| MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB | 5 | Nov 24, 2020 |
| MYH7-related skeletal myopathy | 1 | Sep 27, 2018 |
| Macrocephaly | 22 | Dec 8, 2017 |
| Macrocephaly at birth | 2 | Dec 8, 2017 |
| Macrocephaly, acquired, with impaired intellectual development | 1 | Nov 24, 2020 |
| Macrocephaly, dysmorphic facies, and psychomotor retardation | 1 | Nov 24, 2020 |
| Macrodactyly of toe | 1 | Dec 8, 2017 |
| Macroscopic hematuria | 1 | Dec 8, 2017 |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 3 | Nov 24, 2020 |
| Macrotia | 4 | Dec 8, 2017 |
| Macular degeneration | 7 | Dec 8, 2017 |
| Macular degeneration, early-onset | 6 | Nov 24, 2020 |
| Macular dystrophy | 5 | Dec 8, 2017 |
| Malar flattening | 2 | Dec 8, 2017 |
| Male infertility | 2 | Dec 8, 2017 |
| Malignant hyperthermia of anesthesia | 1 | Nov 12, 2016 |
| Malignant tumor of esophagus | 2 | Nov 24, 2020 |
| Malignant tumor of prostate | 3 | Nov 24, 2020 |
| Malignant tumor of testis | 1 | Nov 24, 2020 |
| Mandibular hypoplasia-deafness-progeroid syndrome | 4 | Nov 24, 2020 |
| Mandibular prognathia | 1 | Nov 12, 2016 |
| Mandibulofacial dysostosis-microcephaly syndrome | 3 | Nov 24, 2020 |
| Maple syrup urine disease | 3 | Nov 24, 2020 |
| Marfan syndrome | 1 | Nov 12, 2016 |
| Marshall syndrome | 6 | Nov 24, 2020 |
| Marshall-Smith syndrome | 3 | Nov 24, 2020 |
| Mask-like facies | 1 | Dec 8, 2017 |
| Mast syndrome | 1 | Nov 24, 2020 |
| Maternal hypertension | 1 | Dec 8, 2017 |
| Matthew-Wood syndrome | 2 | Nov 24, 2020 |
| Maturity onset diabetes mellitus in young | 1 | Dec 8, 2017 |
| Maturity-onset diabetes of the young type 10 | 1 | Nov 24, 2020 |
| Maturity-onset diabetes of the young type 3 | 1 | Nov 24, 2020 |
| Maturity-onset diabetes of the young type 8 | 1 | Nov 24, 2020 |
| Meckel syndrome, type 8 | 1 | Nov 24, 2020 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2 | Nov 24, 2020 |
| Medullary thyroid carcinoma | 1 | Dec 8, 2017 |
| Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | 3 | Nov 24, 2020 |
| Megacolon | 1 | Dec 8, 2017 |
| Megaconial type congenital muscular dystrophy | 1 | Nov 24, 2020 |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | 1 | Nov 24, 2020 |
| Megalencephalic leukoencephalopathy with subcortical cysts 2A | 3 | Nov 24, 2020 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 4 | Nov 24, 2020 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 1 | Nov 24, 2020 |
| Megaloblastic anemia | 2 | Dec 8, 2017 |
| Megalocornea | 1 | Dec 8, 2017 |
| Melanoma | 4 | Dec 8, 2017 |
| Melorheostosis | 1 | Nov 24, 2020 |
| Memory impairment | 7 | Dec 8, 2017 |
| Menke-Hennekam syndrome 2 | 4 | Nov 24, 2020 |
| Mental deterioration | 6 | Dec 8, 2017 |
| Meretoja syndrome | 1 | Nov 24, 2020 |
| Merosin deficient congenital muscular dystrophy | 4 | Nov 24, 2020 |
| Mesoaxial hand polydactyly | 1 | Nov 12, 2016 |
| Mesomelic/rhizomelic limb shortening | 1 | Dec 8, 2017 |
| Metachromatic leukodystrophy | 6 | Nov 24, 2020 |
| Metaphyseal chondrodysplasia | 1 | Dec 8, 2017 |
| Metaphyseal chondrodysplasia, Schmid type | 1 | Nov 24, 2020 |
| Metaphyseal chondrodysplasia, Spahr type | 3 | Nov 24, 2020 |
| Methemoglobinemia | 1 | Dec 8, 2017 |
| Methylcobalamin deficiency type cblG | 2 | Nov 24, 2020 |
| Methylmalonic aciduria, cblA type | 1 | Nov 24, 2020 |
| Microcephalic osteodysplastic primordial dwarfism type II | 1 | Nov 24, 2020 |
| Microcephalic primordial dwarfism due to RTTN deficiency | 2 | Nov 24, 2020 |
| Microcephalic primordial dwarfism, Alazami type | 1 | Nov 24, 2020 |
| Microcephaly | 49 | Apr 10, 2018 |
| Microcephaly 1, primary, autosomal recessive | 1 | Nov 24, 2020 |
| Microcephaly 13, primary, autosomal recessive | 1 | Nov 24, 2020 |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 1 | Nov 24, 2020 |
| Microcephaly 3, primary, autosomal recessive | 3 | Nov 24, 2020 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 2 | Nov 24, 2020 |
| Microcephaly, normal intelligence and immunodeficiency | 2 | Nov 24, 2020 |
| Microcytic anemia | 1 | Dec 8, 2017 |
| Micrognathia | 8 | Dec 8, 2017 |
| Microphthalmia | 1 | Dec 8, 2017 |
| Microprolactinoma | 1 | Apr 8, 2020 |
| Microretrognathia | 2 | Dec 8, 2017 |
| Microscopic hematuria | 4 | Apr 8, 2020 |
| Middle cerebral artery stenosis | 1 | Dec 8, 2017 |
| Midface retrusion | 1 | Dec 8, 2017 |
| Migraine | 13 | Dec 8, 2017 |
| Migraine with aura | 4 | Dec 8, 2017 |
| Migraine, familial hemiplegic, 1 | 10 | Nov 24, 2020 |
| Migraine, familial hemiplegic, 2 | 3 | Nov 24, 2020 |
| Migraine, familial hemiplegic, 3 | 19 | Nov 24, 2020 |
| Mild fetal ventriculomegaly | 2 | Dec 8, 2017 |
| Mild global developmental delay | 2 | Dec 8, 2017 |
| Mild proteinuria | 2 | Dec 8, 2017 |
| Mildly elevated creatine kinase | 2 | Dec 8, 2017 |
| Mismatch repair cancer syndrome 1 | 10 | Nov 24, 2020 |
| Missing ribs | 2 | Dec 8, 2017 |
| Mitochondrial DNA depletion syndrome 1 | 1 | Nov 24, 2020 |
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 2 | Nov 24, 2020 |
| Mitochondrial DNA depletion syndrome 4b | 3 | Nov 24, 2020 |
| Mitochondrial complex 1 deficiency, nuclear type 16 | 1 | Nov 24, 2020 |
| Mitochondrial complex 1 deficiency, nuclear type 17 | 1 | Nov 24, 2020 |
| Mitochondrial complex 1 deficiency, nuclear type 19 | 2 | Nov 24, 2020 |
| Mitochondrial complex 1 deficiency, nuclear type 21 | 1 | Nov 24, 2020 |
| Mitochondrial complex 1 deficiency, nuclear type 29 | 1 | Nov 24, 2020 |
| Mitochondrial complex 1 deficiency, nuclear type 4 | 1 | Nov 24, 2020 |
| Mitochondrial complex 1 deficiency, nuclear type 5 | 1 | Nov 24, 2020 |
| Mitochondrial complex IV deficiency, nuclear type 1 | 1 | Nov 24, 2020 |
| Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | 2 | Nov 24, 2020 |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | 1 | Nov 24, 2020 |
| Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 3 | Nov 24, 2020 |
| Mitochondrial respiratory chain defects | 1 | Dec 8, 2017 |
| Mitochondrial trifunctional protein deficiency | 2 | Nov 24, 2020 |
| Mitral regurgitation | 3 | Nov 12, 2016 |
| Mitral valve prolapse | 12 | Apr 8, 2020 |
| Mixed demyelinating and axonal polyneuropathy | 1 | Dec 8, 2017 |
| Moderate albuminuria | 1 | Dec 8, 2017 |
| Moderate sensorineural hearing impairment | 2 | Dec 8, 2017 |
| Molar tooth sign on MRI | 2 | Nov 12, 2016 |
| Monochromacy | 2 | Nov 12, 2016 |
| Monocular strabismus | 1 | Dec 8, 2017 |
| Mood changes | 1 | Nov 12, 2016 |
| Morphological central nervous system abnormality | 1 | Dec 8, 2017 |
| Motor delay | 24 | Dec 8, 2017 |
| Motor polyneuropathy | 2 | Dec 8, 2017 |
| Movement disorder | 2 | Dec 8, 2017 |
| Mowat-Wilson syndrome | 2 | Nov 24, 2020 |
| Moyamoya disease 5 | 1 | Nov 24, 2020 |
| Mucopolysaccharidosis type 7 | 2 | Nov 24, 2020 |
| Mucopolysaccharidosis, MPS-I-H/S | 1 | Nov 24, 2020 |
| Mucopolysaccharidosis, MPS-III-A | 1 | Nov 24, 2020 |
| Mucopolysaccharidosis, MPS-IV-A | 1 | Nov 24, 2020 |
| Mucopolysacchariduria | 2 | Dec 8, 2017 |
| Mulibrey nanism syndrome | 1 | Nov 24, 2020 |
| Multicystic kidney dysplasia | 5 | Dec 8, 2017 |
| Multiple acyl-CoA dehydrogenase deficiency | 1 | Nov 24, 2020 |
| Multiple endocrine neoplasia, type 1 | 3 | Nov 24, 2020 |
| Multiple epiphyseal dysplasia | 1 | Nov 12, 2016 |
| Multiple gastrointestinal atresias | 1 | Nov 24, 2020 |
| Multiple joint contractures | 1 | Dec 8, 2017 |
| Multiple prenatal fractures | 1 | Nov 12, 2016 |
| Multiple renal cysts | 4 | Dec 8, 2017 |
| Multiple small medullary renal cysts | 1 | Dec 8, 2017 |
| Multiple sulfatase deficiency | 1 | Nov 24, 2020 |
| Muscle AMP deaminase deficiency | 4 | Nov 24, 2020 |
| Muscle fiber inclusion bodies | 1 | Dec 8, 2017 |
| Muscle spasm | 5 | Dec 8, 2017 |
| Muscle weakness | 26 | Dec 8, 2017 |
| Muscular dystrophy | 11 | Dec 8, 2017 |
| Muscular dystrophy, limb-girdle, autosomal dominant 4 | 6 | Nov 24, 2020 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 4 | Nov 24, 2020 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 | 2 | Nov 24, 2020 |
| Muscular dystrophy-dystroglycanopathy type B5 | 4 | Nov 24, 2020 |
| Muscular ventricular septal defect | 1 | Nov 12, 2016 |
| Myalgia | 9 | Dec 8, 2017 |
| Myelodysplastic syndrome | 2 | Nov 24, 2020 |
| Myocardial infarction | 1 | Dec 8, 2017 |
| Myocarditis | 2 | Dec 8, 2017 |
| Myoclonic dystonia 11 | 1 | Nov 24, 2020 |
| Myoclonus | 4 | Dec 8, 2017 |
| Myoclonus, intractable, neonatal | 3 | Nov 24, 2020 |
| Myofibrillar myopathy | 1 | Nov 12, 2016 |
| Myofibrillar myopathy 3 | 1 | Nov 24, 2020 |
| Myopathic facies | 3 | Dec 8, 2017 |
| Myopathy | 33 | Dec 8, 2017 |
| Myopathy, centronuclear, 5 | 3 | Nov 24, 2020 |
| Myopia | 23 | Apr 8, 2020 |
| Myopia 21, autosomal dominant | 2 | Nov 24, 2020 |
| Myosclerosis | 1 | Nov 24, 2020 |
| Myotonia | 9 | Dec 8, 2017 |
| Myotonia of the upper limb | 1 | Dec 8, 2017 |
| Myxomatous mitral valve degeneration | 1 | Dec 8, 2017 |
| NPHP3-related Meckel-like syndrome | 3 | Nov 24, 2020 |
| Nail dysplasia | 1 | Nov 12, 2016 |
| Nail dystrophy | 5 | Dec 8, 2017 |
| Narcolepsy 7 | 1 | Nov 24, 2020 |
| Narrow chest | 12 | Dec 8, 2017 |
| Narrow forehead | 3 | Dec 8, 2017 |
| Narrow mouth | 1 | Dec 8, 2017 |
| Narrow nasal bridge | 1 | Nov 12, 2016 |
| Narrow nose | 1 | Dec 8, 2017 |
| Narrow palate | 1 | Dec 8, 2017 |
| Naxos disease | 5 | Nov 24, 2020 |
| Nemaline myopathy 2 | 2 | Nov 24, 2020 |
| Nemaline myopathy 6 | 2 | Nov 24, 2020 |
| Nemaline myopathy 9 | 1 | Nov 24, 2020 |
| Neonatal asphyxia | 1 | Dec 8, 2017 |
| Neonatal breathing dysregulation | 2 | Dec 8, 2017 |
| Neonatal hypoglycemia | 2 | Nov 12, 2016 |
| Neonatal hypotonia | 12 | Dec 8, 2017 |
| Neonatal onset | 1 | Nov 12, 2016 |
| Neonatal pseudo-hydrocephalic progeroid syndrome | 2 | Nov 24, 2020 |
| Neonatal respiratory distress | 3 | Dec 8, 2017 |
| Neonatal short-limb short stature | 1 | Dec 8, 2017 |
| Neonatal-onset encephalopathy with rigidity and seizures | 1 | Nov 24, 2020 |
| Neoplasm of ovary | 4 | Nov 12, 2016 |
| Nephrolithiasis | 1 | Dec 8, 2017 |
| Nephrolithiasis, calcium oxalate | 2 | Nov 24, 2020 |
| Nephronophthisis 1 | 1 | Nov 24, 2020 |
| Nephronophthisis 15 | 1 | Nov 24, 2020 |
| Netherton syndrome | 2 | Nov 24, 2020 |
| Neurodegeneration | 6 | Nov 12, 2016 |
| Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 1 | Nov 24, 2020 |
| Neurodegeneration with brain iron accumulation 5 | 2 | Nov 24, 2020 |
| Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | 3 | Nov 24, 2020 |
| Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies | 1 | Nov 24, 2020 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 3 | Nov 24, 2020 |
| Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | 3 | Nov 24, 2020 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 5 | Nov 24, 2020 |
| Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | 3 | Nov 24, 2020 |
| Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | 3 | Nov 24, 2020 |
| Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | 1 | Nov 24, 2020 |
| Neurodevelopmental disorder with severe motor impairment and absent language | 1 | Nov 24, 2020 |
| Neurofibroma | 7 | Dec 8, 2017 |
| Neurofibromatosis, type 1 | 36 | Nov 24, 2020 |
| Neuromuscular dysphagia | 1 | Dec 8, 2017 |
| Neuronal ceroid lipofuscinosis 11 | 1 | Nov 24, 2020 |
| Neuronal ceroid lipofuscinosis 2 | 2 | Nov 24, 2020 |
| Neuronal ceroid lipofuscinosis 7 | 4 | Nov 24, 2020 |
| Neuronopathy, distal hereditary motor, type 2B | 1 | Nov 24, 2020 |
| Neuronopathy, distal hereditary motor, type 2C | 1 | Nov 24, 2020 |
| Neuronopathy, distal hereditary motor, type 2D | 1 | Nov 24, 2020 |
| Neuropathic spinal arthropathy | 3 | Dec 8, 2017 |
| Neuropathy, hereditary sensory and autonomic, type 1C | 1 | Nov 24, 2020 |
| Neuropathy, hereditary sensory and autonomic, type 2A | 16 | Nov 24, 2020 |
| Neuropathy, hereditary sensory, type 1D | 2 | Nov 24, 2020 |
| Neutral lipid storage myopathy | 1 | Nov 24, 2020 |
| Neutropenia | 3 | Nov 12, 2016 |
| Nicolaides-Baraitser syndrome | 2 | Nov 24, 2020 |
| Niemann-Pick disease, type C1 | 5 | Nov 24, 2020 |
| Niemann-Pick disease, type C2 | 1 | Nov 24, 2020 |
| Night blindness | 3 | Dec 8, 2017 |
| Non-ketotic hyperglycinemia | 5 | Nov 24, 2020 |
| Non-ossifying fibromas with pathologic factures and X-linked intellectual disability | 1 | Feb 13, 2023 |
| Noncompaction cardiomyopathy | 5 | Dec 8, 2017 |
| Noonan syndrome 1 | 1 | Apr 21, 2021 |
| Noonan syndrome 9 | 1 | Nov 24, 2020 |
| Noonan syndrome-like disorder with loose anagen hair 1 | 1 | Nov 24, 2020 |
| Normocytic anemia | 1 | Dec 8, 2017 |
| Numerous pigmented freckles | 2 | Dec 8, 2017 |
| Nystagmus | 27 | Dec 8, 2017 |
| Nystagmus 6, congenital, X-linked | 1 | Nov 24, 2020 |
| Obesity | 12 | Nov 24, 2020 |
| Obesity due to leptin receptor gene deficiency | 1 | Nov 24, 2020 |
| Occipital encephalocele | 2 | Dec 8, 2017 |
| Occipital pachygyria and polymicrogyria | 2 | Nov 24, 2020 |
| Ocular albinism | 6 | Dec 8, 2017 |
| Oculocerebrofacial syndrome, Kaufman type | 1 | Nov 24, 2020 |
| Oculofaciocardiodental syndrome | 4 | Nov 24, 2020 |
| Oculogyric crisis | 2 | Dec 8, 2017 |
| Oculomotor apraxia | 2 | Dec 8, 2017 |
| Odonto-onycho-dermal dysplasia | 1 | Nov 24, 2020 |
| Oligodontia-cancer predisposition syndrome | 1 | Nov 24, 2020 |
| Oligohydramnios | 8 | Dec 8, 2017 |
| Oligospermia | 1 | Nov 12, 2016 |
| Opacification of the corneal stroma | 1 | Nov 12, 2016 |
| Open mouth | 2 | Dec 8, 2017 |
| Opsismodysplasia | 1 | Nov 24, 2020 |
| Optic atrophy | 4 | Dec 8, 2017 |
| Optic atrophy 12 | 1 | Nov 24, 2020 |
| Optic atrophy 9 | 4 | Nov 24, 2020 |
| Optic disc drusen | 2 | Dec 8, 2017 |
| Optic nerve glioma | 3 | Dec 8, 2017 |
| Optic nerve hypoplasia | 1 | Nov 12, 2016 |
| Optic neuritis | 1 | Dec 8, 2017 |
| Optic neuropathy | 2 | Dec 8, 2017 |
| Oral cavity telangiectasia | 2 | Dec 8, 2017 |
| Ornithine aminotransferase deficiency | 1 | Nov 24, 2020 |
| Ornithine carbamoyltransferase deficiency | 4 | Nov 24, 2020 |
| Orofacial cleft | 1 | Dec 8, 2017 |
| Orofacial cleft 11 | 1 | Nov 24, 2020 |
| Orofacial-digital syndrome IV | 1 | Nov 24, 2020 |
| Orofaciodigital syndrome type 14 | 2 | Nov 24, 2020 |
| Orofaciodigital syndrome type 6 | 2 | Nov 24, 2020 |
| Oromandibular dystonia | 1 | Dec 8, 2017 |
| Osteoarthritis susceptibility 2 | 2 | Nov 24, 2020 |
| Osteocraniostenosis | 1 | Nov 24, 2020 |
| Osteogenesis imperfecta type 14 | 1 | Nov 24, 2020 |
| Osteogenesis imperfecta type 16 | 1 | Nov 24, 2020 |
| Osteogenesis imperfecta type 7 | 1 | Nov 24, 2020 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 17 | Nov 24, 2020 |
| Osteomyelitis leading to amputation due to slow healing fractures | 1 | Dec 8, 2017 |
| Osteopathia striata with cranial sclerosis | 1 | Nov 24, 2020 |
| Osteopenia | 3 | Dec 8, 2017 |
| Osteopetrosis with renal tubular acidosis | 1 | Nov 24, 2020 |
| Osteoporosis | 2 | Dec 8, 2017 |
| Otofaciocervical syndrome 1 | 3 | Nov 24, 2020 |
| Overgrowth | 2 | Nov 12, 2016 |
| Overlapping fingers | 1 | Dec 8, 2017 |
| PGM1-congenital disorder of glycosylation | 1 | Nov 24, 2020 |
| PHGDH deficiency | 2 | Nov 24, 2020 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 1 | Nov 24, 2020 |
| PMM2-congenital disorder of glycosylation | 4 | Nov 24, 2020 |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 1 | Nov 24, 2020 |
| Pachygyria | 1 | Dec 8, 2017 |
| Pachyonychia congenita 3 | 1 | Nov 24, 2020 |
| Pain | 8 | Dec 8, 2017 |
| Pain insensitivity | 2 | Nov 12, 2016 |
| Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | 1 | Nov 24, 2020 |
| Palate telangiectasia | 1 | Dec 8, 2017 |
| Pallister-Hall syndrome | 2 | Nov 24, 2020 |
| Palmoplantar blistering | 7 | Dec 8, 2017 |
| Palmoplantar hyperhidrosis | 1 | Dec 8, 2017 |
| Palmoplantar keratoderma | 3 | Dec 8, 2017 |
| Palpitations | 2 | Dec 8, 2017 |
| Pancreatic cysts | 4 | Dec 8, 2017 |
| Pancreatic insulin-producing neuroendocrine tumor | 1 | Dec 8, 2017 |
| Pancreatitis | 2 | Dec 8, 2017 |
| Panhypopituitarism, X-linked | 1 | Nov 24, 2020 |
| Papule | 1 | Nov 12, 2016 |
| Paragangliomas 4 | 4 | Nov 24, 2020 |
| Paraparesis | 1 | Nov 12, 2016 |
| Parathyroid gland adenoma | 3 | Dec 8, 2017 |
| Paresthesia | 4 | Dec 8, 2017 |
| Parkinson disease 11, autosomal dominant, susceptibility to | 1 | Nov 24, 2020 |
| Parkinson disease, late-onset | 1 | Nov 24, 2020 |
| Parkinsonian disorder | 14 | Dec 8, 2017 |
| Paroxysmal dyskinesia | 1 | Nov 12, 2016 |
| Paroxysmal dystonia | 3 | Dec 8, 2017 |
| Paroxysmal nonkinesigenic dyskinesia 1 | 3 | Nov 24, 2020 |
| Partial agenesis of the corpus callosum | 1 | Nov 12, 2016 |
| Patellar dislocation | 1 | Dec 8, 2017 |
| Patent foramen ovale | 1 | Dec 8, 2017 |
| Pathologic fracture | 1 | Dec 8, 2017 |
| Patterned macular dystrophy 2 | 1 | Nov 24, 2020 |
| Pear-shaped nose | 1 | Nov 12, 2016 |
| Pectus carinatum | 2 | Apr 8, 2020 |
| Pectus excavatum | 4 | Nov 12, 2016 |
| Pedal edema | 2 | Dec 8, 2017 |
| Pelger-Huët anomaly | 2 | Nov 24, 2020 |
| Pelizaeus-Merzbacher disease | 3 | Nov 24, 2020 |
| Pelvic girdle muscle weakness | 2 | Nov 12, 2016 |
| Penetrating foot ulcers | 1 | Dec 8, 2017 |
| Penile hypospadias | 6 | Dec 8, 2017 |
| Pericardial effusion | 1 | Nov 12, 2016 |
| Periorbital fullness | 1 | Dec 8, 2017 |
| Periorbital hyperpigmentation | 1 | Nov 12, 2016 |
| Peripheral axonal neuropathy | 6 | Dec 8, 2017 |
| Peripheral demyelination | 1 | Nov 12, 2016 |
| Peripheral hypomyelination | 2 | Dec 8, 2017 |
| Peripheral neuropathy | 6 | Nov 12, 2016 |
| Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 8 | Nov 24, 2020 |
| Peripheral pulmonary artery stenosis | 1 | Nov 12, 2016 |
| Peripheral schwannoma | 1 | Dec 8, 2017 |
| Peripheral visual field loss | 3 | Dec 8, 2017 |
| Periportal fibrosis | 2 | Nov 12, 2016 |
| Peritonitis | 2 | Dec 8, 2017 |
| Periventricular cysts | 1 | Nov 12, 2016 |
| Periventricular heterotopia | 1 | Dec 8, 2017 |
| Periventricular heterotopia with microcephaly, autosomal recessive | 1 | Nov 24, 2020 |
| Periventricular leukomalacia | 3 | Dec 8, 2017 |
| Periventricular nodular heterotopia 7 | 1 | Nov 24, 2020 |
| Periventricular nodular heterotopia 9 | 2 | Nov 24, 2020 |
| Permanent neonatal diabetes mellitus | 2 | Nov 24, 2020 |
| Peroneal muscle atrophy | 2 | Dec 8, 2017 |
| Peroxisome biogenesis disorder 1B | 1 | Nov 24, 2020 |
| Peroxisome biogenesis disorder 2A (Zellweger) | 1 | Nov 24, 2020 |
| Peroxisome biogenesis disorder 4A (Zellweger) | 4 | Nov 24, 2020 |
| Peroxisome biogenesis disorder 5A (Zellweger) | 1 | Nov 24, 2020 |
| Peroxisome biogenesis disorder 6A (Zellweger) | 1 | Nov 24, 2020 |
| Peroxisome biogenesis disorder 7B | 1 | Nov 24, 2020 |
| Peroxisome biogenesis disorder 9B | 2 | Nov 24, 2020 |
| Peroxisome biogenesis disorder type 3B | 1 | Nov 24, 2020 |
| Perrault syndrome 1 | 1 | Nov 24, 2020 |
| Perrault syndrome 4 | 1 | Nov 24, 2020 |
| Persistence of hemoglobin F | 1 | Nov 12, 2016 |
| Persistent hyperplastic primary vitreous | 1 | Nov 12, 2016 |
| Pes cavus | 8 | Dec 8, 2017 |
| Pes planus | 10 | Apr 8, 2020 |
| Pes valgus | 5 | Apr 8, 2020 |
| Peters plus syndrome | 1 | Nov 24, 2020 |
| Phelan-McDermid syndrome | 2 | Nov 24, 2020 |
| Phenylketonuria | 6 | Nov 24, 2020 |
| Pheochromocytoma | 2 | Nov 24, 2020 |
| Phonophobia | 1 | Dec 8, 2017 |
| Phosphate transport defect | 1 | Nov 24, 2020 |
| Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 1 | Nov 24, 2020 |
| Phosphoribosylpyrophosphate synthetase superactivity | 1 | Nov 24, 2020 |
| Photophobia | 1 | Dec 8, 2017 |
| Pigmentary retinal dystrophy | 11 | Nov 24, 2020 |
| Pigmentary retinopathy | 5 | Dec 8, 2017 |
| Pigmented nodular adrenocortical disease, primary, 2 | 2 | Nov 24, 2020 |
| Pigmented paravenous retinochoroidal atrophy | 9 | Nov 24, 2020 |
| Pilarowski-Bjornsson syndrome | 1 | Nov 24, 2020 |
| Pitt-Hopkins syndrome | 8 | Nov 24, 2020 |
| Pitt-Hopkins-like syndrome 2 | 4 | Nov 24, 2020 |
| Pituitary adenoma 5, multiple types | 4 | Nov 24, 2020 |
| Pituitary hormone deficiency, combined, 2 | 1 | Nov 24, 2020 |
| Pityriasis rubra pilaris | 1 | Nov 24, 2020 |
| Plagiocephaly | 1 | Apr 8, 2020 |
| Plantar crease between first and second toes | 1 | Dec 8, 2017 |
| Plasminogen deficiency, type I | 1 | Nov 24, 2020 |
| Platelet-type bleeding disorder 16 | 2 | Nov 24, 2020 |
| Pleural effusion | 1 | Nov 12, 2016 |
| Plexiform neurofibroma | 1 | Nov 12, 2016 |
| Pneumothorax | 1 | Dec 8, 2017 |
| Pointed chin | 4 | Dec 8, 2017 |
| Poliosis | 1 | Nov 12, 2016 |
| Polycystic kidney disease | 33 | Dec 8, 2017 |
| Polycystic kidney disease 2 | 9 | Nov 24, 2020 |
| Polycystic kidney disease 4 | 4 | Nov 24, 2020 |
| Polycystic kidney disease, adult type | 27 | Nov 24, 2020 |
| Polycystic liver disease 1 | 4 | Dec 8, 2017 |
| Polycystic liver disease 2 | 1 | Nov 24, 2020 |
| Polydactyly | 4 | Dec 8, 2017 |
| Polydactyly, postaxial, type A1 | 4 | Dec 8, 2017 |
| Polyglandular autoimmune syndrome, type 1 | 1 | Nov 24, 2020 |
| Polyglucosan body myopathy type 1 | 1 | Nov 24, 2020 |
| Polyglucosan body myopathy type 2 | 2 | Nov 24, 2020 |
| Polyhydramnios | 2 | Dec 8, 2017 |
| Polymicrogyria | 5 | Nov 12, 2016 |
| Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | 5 | Nov 24, 2020 |
| Polymorphous corneal dystrophy | 1 | Nov 12, 2016 |
| Polyneuropathy | 3 | Nov 12, 2016 |
| Polyposis syndrome, hereditary mixed, 2 | 1 | Nov 24, 2020 |
| Pontocerebellar hypoplasia type 2D | 1 | Nov 24, 2020 |
| Pontocerebellar hypoplasia type 5 | 3 | Nov 24, 2020 |
| Pontocerebellar hypoplasia type 6 | 1 | Nov 24, 2020 |
| Pontocerebellar hypoplasia type 7 | 1 | Nov 24, 2020 |
| Pontocerebellar hypoplasia, type 11 | 1 | Nov 24, 2020 |
| Pontoneocerebellar hypoplasia | 1 | May 21, 2020 |
| Poor coordination | 1 | Nov 12, 2016 |
| Poor fine motor coordination | 1 | Nov 12, 2016 |
| Poor motor coordination | 1 | Dec 8, 2017 |
| Poor speech | 6 | Dec 8, 2017 |
| Poor wound healing | 3 | Dec 8, 2017 |
| Porencephalic cyst | 2 | Dec 8, 2017 |
| Porencephaly 2 | 6 | Nov 24, 2020 |
| Porencephaly-microcephaly-bilateral congenital cataract syndrome | 1 | Nov 24, 2020 |
| Porphyrinuria | 2 | Nov 12, 2016 |
| Positive Romberg sign | 2 | Dec 8, 2017 |
| Postaxial foot polydactyly | 2 | Nov 12, 2016 |
| Postaxial hand polydactyly | 5 | Dec 8, 2017 |
| Postnatal growth retardation | 1 | Nov 12, 2016 |
| Postural instability | 2 | Nov 12, 2016 |
| Potocki-Lupski syndrome | 2 | Nov 24, 2020 |
| Prader-Willi syndrome | 12 | Nov 24, 2020 |
| Preauricular skin tag | 1 | Nov 12, 2016 |
| Preeclampsia | 1 | Nov 12, 2016 |
| Pregnancy loss, recurrent, susceptibility to, 2 | 1 | Nov 24, 2020 |
| Prelingual sensorineural hearing impairment | 1 | Nov 12, 2016 |
| Premature birth | 7 | Dec 8, 2017 |
| Premature ovarian failure 2B | 1 | Nov 24, 2020 |
| Premature ovarian failure 3 | 1 | Nov 24, 2020 |
| Premature ovarian insufficiency | 3 | Dec 8, 2017 |
| Premature ventricular contraction | 1 | Dec 8, 2017 |
| Primary ciliary dyskinesia 15 | 5 | Nov 24, 2020 |
| Primary ciliary dyskinesia 17 | 1 | Nov 24, 2020 |
| Primary ciliary dyskinesia 19 | 1 | Nov 24, 2020 |
| Primary ciliary dyskinesia 3 | 4 | Nov 24, 2020 |
| Primary ciliary dyskinesia 5 | 1 | Nov 24, 2020 |
| Primary ciliary dyskinesia 7 | 2 | Nov 24, 2020 |
| Primary dilated cardiomyopathy | 14 | Dec 8, 2017 |
| Primary hyperparathyroidism | 1 | Dec 8, 2017 |
| Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | 1 | Nov 24, 2020 |
| Primary microcephaly | 8 | Dec 8, 2017 |
| Primary open angle glaucoma | 2 | Nov 24, 2020 |
| Profound global developmental delay | 2 | Dec 8, 2017 |
| Progeroid and marfanoid aspect-lipodystrophy syndrome | 19 | Nov 24, 2020 |
| Progressive bulbar palsy of childhood | 1 | Nov 24, 2020 |
| Progressive distal muscle weakness | 4 | Nov 12, 2016 |
| Progressive distal muscular atrophy | 2 | Dec 8, 2017 |
| Progressive external ophthalmoplegia | 1 | Dec 8, 2017 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | 2 | Nov 24, 2020 |
| Progressive familial heart block type IB | 3 | Nov 24, 2020 |
| Progressive gait ataxia | 1 | Dec 8, 2017 |
| Progressive hearing impairment | 1 | Nov 12, 2016 |
| Progressive microcephaly | 5 | Dec 8, 2017 |
| Progressive muscle weakness | 6 | Dec 8, 2017 |
| Progressive myoclonic epilepsy type 7 | 4 | Nov 24, 2020 |
| Progressive myoclonic epilepsy type 8 | 1 | Nov 24, 2020 |
| Progressive neurodegenerative disease | 1 | Nov 12, 2016 |
| Progressive neurologic deterioration | 2 | Nov 12, 2016 |
| Progressive pes cavus | 1 | Dec 8, 2017 |
| Progressive proximal muscle weakness | 5 | Dec 8, 2017 |
| Progressive ptosis | 2 | Dec 8, 2017 |
| Progressive retinal dystrophy due to retinol transport defect | 2 | Nov 24, 2020 |
| Progressive scapulohumeroperoneal distal myopathy | 3 | Nov 24, 2020 |
| Progressive sensorineural hearing impairment | 6 | Dec 8, 2017 |
| Progressive spinal muscular atrophy | 2 | Dec 8, 2017 |
| Progressive visual loss | 5 | Dec 8, 2017 |
| Prolactin-producing pituitary gland adenoma | 1 | Nov 12, 2016 |
| Prolonged QT interval | 1 | Dec 8, 2017 |
| Prolonged QTc interval | 1 | Dec 8, 2017 |
| Prolonged bleeding time | 3 | Dec 8, 2017 |
| Prominent fingertip pads | 1 | Dec 8, 2017 |
| Prominent forehead | 2 | Dec 8, 2017 |
| Prominent metopic ridge | 1 | Nov 12, 2016 |
| Prominent superficial blood vessels | 1 | Dec 8, 2017 |
| Propionic acidemia | 2 | Nov 24, 2020 |
| Proportionate short stature | 1 | Nov 12, 2016 |
| Proptosis | 1 | Nov 12, 2016 |
| Prostate neoplasm | 1 | Nov 12, 2016 |
| Protein avoidance | 1 | Dec 8, 2017 |
| Proteinuria | 10 | Dec 8, 2017 |
| Protoporphyria, erythropoietic, 1 | 2 | Nov 24, 2020 |
| Protruding ear | 1 | Dec 8, 2017 |
| Protruding tongue | 1 | Nov 12, 2016 |
| Protrusio acetabuli | 1 | Nov 12, 2016 |
| Proximal amyotrophy | 1 | Nov 12, 2016 |
| Proximal lower limb amyotrophy | 2 | Nov 12, 2016 |
| Proximal muscle weakness | 3 | Nov 12, 2016 |
| Proximal muscle weakness in lower limbs | 1 | Dec 8, 2017 |
| Proximal placement of thumb | 1 | Dec 8, 2017 |
| Pruritus | 1 | Nov 12, 2016 |
| Pseudo-Hurler polydystrophy | 2 | Nov 24, 2020 |
| Pseudohypoparathyroidism type 1B | 7 | Nov 24, 2020 |
| Psychomotor deterioration | 1 | Dec 8, 2017 |
| Ptosis | 8 | Dec 8, 2017 |
| Pulmonary arterial hypertension | 4 | Dec 8, 2017 |
| Pulmonary arteriovenous malformation | 1 | Dec 8, 2017 |
| Pulmonary artery atresia | 1 | Dec 8, 2017 |
| Pulmonary artery dilatation | 2 | Dec 8, 2017 |
| Pulmonary artery stenosis | 1 | Dec 8, 2017 |
| Pulmonary hypertension, primary, 1 | 1 | Nov 24, 2020 |
| Pulmonary hypoplasia | 1 | Nov 12, 2016 |
| Pulmonary valve atresia | 1 | Dec 8, 2017 |
| Pulmonic stenosis | 3 | Dec 8, 2017 |
| Purine-nucleoside phosphorylase deficiency | 1 | Nov 24, 2020 |
| Pyloric stenosis | 1 | Dec 8, 2017 |
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 1 | Nov 24, 2020 |
| Pyridoxal phosphate-responsive seizures | 1 | Nov 24, 2020 |
| Pyridoxine-dependent epilepsy | 3 | Nov 24, 2020 |
| Pyruvate carboxylase deficiency | 2 | Nov 24, 2020 |
| Pyruvate dehydrogenase E1-alpha deficiency | 6 | Nov 24, 2020 |
| Pyruvate dehydrogenase E2 deficiency | 2 | Nov 24, 2020 |
| Pyruvate dehydrogenase E3 deficiency | 1 | Nov 24, 2020 |
| Pyruvate dehydrogenase E3-binding protein deficiency | 2 | Nov 24, 2020 |
| RFT1-congenital disorder of glycosylation | 1 | Nov 24, 2020 |
| RHYNS syndrome | 7 | Nov 24, 2020 |
| Radial bowing | 2 | Nov 12, 2016 |
| Rafiq syndrome | 1 | Nov 24, 2020 |
| Rapadilino syndrome | 3 | Nov 24, 2020 |
| Rectal prolapse | 1 | Dec 8, 2017 |
| Recurrent aphthous stomatitis | 2 | Nov 12, 2016 |
| Recurrent fever | 1 | Dec 8, 2017 |
| Recurrent infections | 1 | Dec 8, 2017 |
| Recurrent pancreatitis | 2 | Dec 8, 2017 |
| Recurrent paroxysmal headache | 1 | Dec 8, 2017 |
| Recurrent respiratory infections | 2 | Nov 12, 2016 |
| Recurrent subcortical infarcts | 1 | Nov 12, 2016 |
| Reduced beta/alpha synthesis ratio | 1 | Nov 12, 2016 |
| Reduced bone mineral density | 2 | Dec 8, 2017 |
| Reduced eye contact | 1 | Nov 12, 2016 |
| Reduced tendon reflexes | 1 | Nov 12, 2016 |
| Relative macrocephaly | 4 | Dec 8, 2017 |
| Renal coloboma syndrome | 1 | Nov 24, 2020 |
| Renal cortical cysts | 1 | Nov 12, 2016 |
| Renal cyst | 8 | Nov 12, 2016 |
| Renal hypomagnesemia 4 | 1 | Nov 24, 2020 |
| Renal hypomagnesemia 6 | 3 | Nov 24, 2020 |
| Renal hypoplasia | 3 | Dec 8, 2017 |
| Renal hypoplasia/aplasia | 1 | Dec 8, 2017 |
| Renal insufficiency | 2 | Dec 8, 2017 |
| Renal tubular dysgenesis | 1 | Nov 24, 2020 |
| Renovascular hypertension | 1 | Nov 12, 2016 |
| Renpenning syndrome | 3 | Nov 24, 2020 |
| Respiratory distress | 2 | Nov 12, 2016 |
| Respiratory insufficiency | 6 | Dec 8, 2017 |
| Resting tremor | 2 | Dec 8, 2017 |
| Restrictive ventilatory defect | 2 | Nov 12, 2016 |
| Retinal atrophy | 2 | Nov 12, 2016 |
| Retinal capillary hemangioma | 1 | Dec 8, 2017 |
| Retinal coloboma | 1 | Dec 8, 2017 |
| Retinal cone dystrophy 3A | 1 | Nov 24, 2020 |
| Retinal cone dystrophy 4 | 2 | Nov 24, 2020 |
| Retinal degeneration | 1 | Nov 12, 2016 |
| Retinal detachment | 3 | Dec 8, 2017 |
| Retinal dystrophy | 10 | Dec 8, 2017 |
| Retinal exudate | 1 | Dec 8, 2017 |
| Retinal pigment epithelial atrophy | 5 | Dec 8, 2017 |
| Retinitis pigmentosa | 7 | Nov 24, 2020 |
| Retinitis pigmentosa 1 | 2 | Nov 24, 2020 |
| Retinitis pigmentosa 11 | 1 | Nov 24, 2020 |
| Retinitis pigmentosa 13 | 5 | Nov 24, 2020 |
| Retinitis pigmentosa 18 | 2 | Nov 24, 2020 |
| Retinitis pigmentosa 2 | 1 | Nov 24, 2020 |
| Retinitis pigmentosa 20 | 3 | Nov 24, 2020 |
| Retinitis pigmentosa 23 | 1 | Nov 24, 2020 |
| Retinitis pigmentosa 25 | 3 | Nov 24, 2020 |
| Retinitis pigmentosa 26 | 3 | Nov 24, 2020 |
| Retinitis pigmentosa 28 | 1 | Nov 24, 2020 |
| Retinitis pigmentosa 3 | 5 | Nov 24, 2020 |
| Retinitis pigmentosa 31 | 3 | Nov 24, 2020 |
| Retinitis pigmentosa 33 | 4 | Nov 24, 2020 |
| Retinitis pigmentosa 40 | 7 | Nov 24, 2020 |
| Retinitis pigmentosa 43 | 2 | Nov 24, 2020 |
| Retinitis pigmentosa 44 | 2 | Nov 24, 2020 |
| Retinitis pigmentosa 45 | 2 | Nov 24, 2020 |
| Retinitis pigmentosa 47 | 1 | Nov 24, 2020 |
| Retinitis pigmentosa 51 | 2 | Nov 24, 2020 |
| Retinitis pigmentosa 56 | 4 | Nov 24, 2020 |
| Retinitis pigmentosa 58 | 1 | Nov 24, 2020 |
| Retinitis pigmentosa 59 | 1 | Nov 24, 2020 |
| Retinitis pigmentosa 60 | 4 | Nov 24, 2020 |
| Retinitis pigmentosa 73 | 3 | Nov 24, 2020 |
| Retinitis pigmentosa 81 | 1 | Nov 24, 2020 |
| Retinitis pigmentosa 88 | 6 | Nov 24, 2020 |
| Retinoblastoma | 5 | Nov 24, 2020 |
| Retinopathy | 3 | Dec 8, 2017 |
| Retrognathia | 2 | Dec 8, 2017 |
| Rett syndrome, congenital variant | 2 | Nov 24, 2020 |
| Rhabdoid tumor predisposition syndrome 2 | 5 | Nov 24, 2020 |
| Rhabdomyolysis | 2 | Nov 12, 2016 |
| Rhabdomyosarcoma | 2 | Nov 12, 2016 |
| Rhabdomyosarcoma, embryonal, 2 | 1 | Nov 24, 2020 |
| Rhizomelia | 1 | Dec 8, 2017 |
| Rhizomelic arm shortening | 1 | Dec 8, 2017 |
| Rhizomelic chondrodysplasia punctata type 2 | 1 | Nov 24, 2020 |
| Rhizomelic leg shortening | 1 | Dec 8, 2017 |
| Rib fusion | 1 | Dec 8, 2017 |
| Ridged nail | 1 | Dec 8, 2017 |
| Rienhoff syndrome | 2 | Nov 24, 2020 |
| Right bundle branch block | 1 | Nov 12, 2016 |
| Right ventricular cardiomyopathy | 3 | Dec 8, 2017 |
| Right ventricular dilatation | 1 | Nov 12, 2016 |
| Right ventricular hypertrophy | 2 | Nov 12, 2016 |
| Rigidity | 7 | Dec 8, 2017 |
| Rimmed vacuoles | 1 | Nov 12, 2016 |
| Rippling muscle disease 2 | 1 | Nov 24, 2020 |
| Ritscher-Schinzel syndrome 2 | 1 | Nov 24, 2020 |
| Roberts-SC phocomelia syndrome | 1 | Nov 24, 2020 |
| Rod-cone dystrophy | 5 | Dec 8, 2017 |
| Rotary nystagmus | 1 | Nov 12, 2016 |
| Round face | 1 | Nov 12, 2016 |
| Roussy-Lévy syndrome | 8 | Nov 24, 2020 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 12 | Nov 24, 2020 |
| SIN3A-related intellectual disability syndrome due to a point mutation | 1 | Nov 24, 2020 |
| STAT3-related early-onset multisystem autoimmune disease | 2 | Nov 24, 2020 |
| Sagittal craniosynostosis | 1 | Nov 12, 2016 |
| Saldino-Mainzer syndrome | 1 | Nov 24, 2020 |
| Sandal gap | 1 | Dec 8, 2017 |
| Scapular winging | 1 | Dec 8, 2017 |
| Scarring | 3 | Nov 12, 2016 |
| Scarring alopecia of scalp | 3 | Nov 12, 2016 |
| Schimke immuno-osseous dysplasia | 3 | Nov 24, 2020 |
| Schizencephaly | 3 | Nov 24, 2020 |
| Schizophrenia | 1 | Nov 12, 2016 |
| Schizophrenia 4 | 2 | Nov 24, 2020 |
| Schuurs-Hoeijmakers syndrome | 1 | Nov 24, 2020 |
| Schwannoma | 1 | Dec 8, 2017 |
| Schwannomatosis 1 | 1 | Nov 24, 2020 |
| Schwannomatosis 2 | 4 | Nov 24, 2020 |
| Scleroderma | 1 | Nov 12, 2016 |
| Scoliosis | 18 | Apr 8, 2020 |
| Seckel syndrome 1 | 4 | Nov 24, 2020 |
| Seckel syndrome 4 | 1 | Nov 24, 2020 |
| Seckel syndrome 5 | 2 | Nov 24, 2020 |
| Seckel syndrome 7 | 3 | Nov 24, 2020 |
| Secondary microcephaly | 4 | Dec 8, 2017 |
| See cases | 121 | Nov 24, 2020 |
| Seizure | 78 | Apr 8, 2020 |
| Seizures, benign familial infantile, 3 | 3 | Nov 24, 2020 |
| Seizures, benign familial neonatal, 2 | 2 | Nov 24, 2020 |
| Self-injurious behavior | 4 | Dec 8, 2017 |
| Self-mutilation | 1 | Nov 12, 2016 |
| Senior-Loken syndrome 4 | 1 | Nov 24, 2020 |
| Sensorimotor neuropathy | 5 | Dec 8, 2017 |
| Sensorineural hearing loss disorder | 7 | Dec 8, 2017 |
| Sensory neuropathy | 4 | Nov 12, 2016 |
| Sepsis | 1 | Dec 8, 2017 |
| Severe X-linked myotubular myopathy | 2 | Nov 24, 2020 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 2 | Nov 24, 2020 |
| Severe global developmental delay | 21 | Dec 8, 2017 |
| Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | 3 | Nov 24, 2020 |
| Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | 1 | Nov 24, 2020 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 3 | Nov 24, 2020 |
| Severe neurodegenerative syndrome with lipodystrophy | 1 | Nov 24, 2020 |
| Severe photosensitivity | 1 | Dec 8, 2017 |
| Severe sensorineural hearing impairment | 1 | Nov 12, 2016 |
| Shallow orbits | 1 | Dec 8, 2017 |
| Shashi-Pena syndrome | 2 | Nov 24, 2020 |
| Short QT syndrome type 1 | 5 | Nov 24, 2020 |
| Short attention span | 2 | Dec 8, 2017 |
| Short chin | 3 | Dec 8, 2017 |
| Short distal phalanx of toe | 1 | Dec 8, 2017 |
| Short femur | 2 | Nov 12, 2016 |
| Short foot | 3 | Dec 8, 2017 |
| Short lingual frenulum | 2 | Nov 12, 2016 |
| Short long bone | 2 | Dec 8, 2017 |
| Short lower limbs | 2 | Nov 12, 2016 |
| Short metacarpal | 3 | Dec 8, 2017 |
| Short neck | 2 | Dec 8, 2017 |
| Short nose | 5 | Dec 8, 2017 |
| Short palm | 1 | Dec 8, 2017 |
| Short phalanx of finger | 1 | Dec 8, 2017 |
| Short ribs | 3 | Dec 8, 2017 |
| Short stature | 55 | Apr 8, 2020 |
| Short stature due to partial GHR deficiency | 3 | Nov 24, 2020 |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 1 | Nov 24, 2020 |
| Short stature-pituitary and cerebellar defects-small sella turcica syndrome | 1 | Nov 24, 2020 |
| Short thumb | 1 | Dec 8, 2017 |
| Short-rib thoracic dysplasia 6 with or without polydactyly | 3 | Nov 24, 2020 |
| Shoulder girdle muscle weakness | 5 | Dec 8, 2017 |
| Shprintzen-Goldberg syndrome | 2 | Nov 24, 2020 |
| Shuffling gait | 1 | Dec 8, 2017 |
| Sialic acid storage disease, severe infantile type | 1 | Nov 24, 2020 |
| Sick sinus syndrome 1 | 8 | Nov 24, 2020 |
| Sifrim-Hitz-Weiss syndrome | 3 | Nov 24, 2020 |
| Single transverse palmar crease | 4 | Apr 8, 2020 |
| Single umbilical artery | 1 | Nov 12, 2016 |
| Singleton-Merten syndrome 1 | 4 | Nov 24, 2020 |
| Singleton-Merten syndrome 2 | 3 | Nov 24, 2020 |
| Sinus bradycardia | 1 | Dec 8, 2017 |
| Skeletal dysplasia | 7 | Dec 8, 2017 |
| Skeletal muscle hypertrophy | 1 | Dec 8, 2017 |
| Skin erosion | 2 | Dec 8, 2017 |
| Skin fragility with non-scarring blistering | 4 | Dec 8, 2017 |
| Skraban-Deardorff syndrome | 2 | Nov 24, 2020 |
| Sleep abnormality | 4 | Dec 8, 2017 |
| Sleep apnea | 1 | Dec 8, 2017 |
| Slow decrease in visual acuity | 4 | Dec 8, 2017 |
| Slurred speech | 1 | Dec 8, 2017 |
| Small for gestational age | 12 | Dec 8, 2017 |
| Small hand | 2 | Nov 12, 2016 |
| Smith-Lemli-Opitz syndrome | 4 | Nov 24, 2020 |
| Smith-Magenis syndrome | 5 | Nov 24, 2020 |
| Snijders Blok-Campeau syndrome | 1 | Nov 24, 2020 |
| Soft skin | 5 | Dec 8, 2017 |
| Sorsby fundus dystrophy | 1 | Nov 24, 2020 |
| Sotos syndrome | 8 | Nov 24, 2020 |
| Sparse and thin eyebrow | 3 | Nov 12, 2016 |
| Sparse hair | 2 | Nov 12, 2016 |
| Sparse scalp hair | 3 | Nov 12, 2016 |
| Spastic ataxia | 1 | Nov 12, 2016 |
| Spastic diplegia | 1 | Dec 8, 2017 |
| Spastic gait | 3 | Dec 8, 2017 |
| Spastic paraparesis | 8 | Dec 8, 2017 |
| Spastic paraplegia | 10 | Dec 8, 2017 |
| Spastic paraplegia 52, autosomal recessive | 1 | Nov 24, 2020 |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity | 4 | Nov 24, 2020 |
| Spastic tetraparesis | 1 | Nov 12, 2016 |
| Spastic tetraplegia and axial hypotonia, progressive | 2 | Nov 24, 2020 |
| Spasticity | 4 | Dec 8, 2017 |
| Specific learning disability | 4 | Dec 8, 2017 |
| Speech apraxia | 2 | Nov 12, 2016 |
| Speech articulation difficulties | 2 | Dec 8, 2017 |
| Spinal dysraphism | 1 | Dec 8, 2017 |
| Spinal hemangioblastoma | 1 | Dec 8, 2017 |
| Spinal rigidity | 3 | Nov 12, 2016 |
| Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | 5 | Nov 24, 2020 |
| Spinocerebellar ataxia 43 | 6 | Nov 24, 2020 |
| Spinocerebellar ataxia 7 | 1 | Nov 24, 2020 |
| Spinocerebellar ataxia type 1 | 2 | Nov 24, 2020 |
| Spinocerebellar ataxia type 10 | 2 | Nov 24, 2020 |
| Spinocerebellar ataxia type 14 | 1 | Nov 24, 2020 |
| Spinocerebellar ataxia type 2 | 2 | Nov 24, 2020 |
| Spinocerebellar ataxia type 27 | 2 | Nov 24, 2020 |
| Spinocerebellar ataxia type 35 | 1 | Nov 24, 2020 |
| Spinocerebellar ataxia type 38 | 1 | Nov 24, 2020 |
| Spinocerebellar ataxia type 5 | 7 | Nov 24, 2020 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 3 | Nov 24, 2020 |
| Splenomegaly | 6 | Dec 8, 2017 |
| Spondylocostal dysostosis 5 | 2 | Nov 24, 2020 |
| Spondyloepimetaphyseal dysplasia with multiple dislocations | 1 | Nov 24, 2020 |
| Spondyloepimetaphyseal dysplasia, Bieganski type | 2 | Nov 24, 2020 |
| Spondyloepimetaphyseal dysplasia, PAPSS2 type | 1 | Nov 24, 2020 |
| Spondyloepiphyseal dysplasia tarda | 1 | Nov 24, 2020 |
| Spontaneous hematomas | 3 | Dec 8, 2017 |
| Spontaneous, recurrent epistaxis | 2 | Dec 8, 2017 |
| Stage 5 chronic kidney disease | 3 | Nov 12, 2016 |
| Stargardt-like macular dystrophy | 2 | Feb 14, 2023 |
| Status epilepticus | 2 | Nov 12, 2016 |
| Stenosis of the external auditory canal | 1 | Nov 12, 2016 |
| Steppage gait | 1 | Dec 8, 2017 |
| Stereotypic movement disorder | 7 | Dec 8, 2017 |
| Stereotypical body rocking | 1 | Dec 8, 2017 |
| Stereotypical hand wringing | 1 | Dec 8, 2017 |
| Steroid-resistant nephrotic syndrome | 2 | Nov 12, 2016 |
| Stickler syndrome, type 4 | 2 | Nov 24, 2020 |
| Stiff skin | 1 | Nov 12, 2016 |
| Strabismus | 23 | Apr 8, 2020 |
| Stress urinary incontinence | 2 | Dec 8, 2017 |
| Striae distensae | 6 | Apr 8, 2020 |
| Stridor | 2 | Nov 12, 2016 |
| Stroke disorder | 4 | Dec 8, 2017 |
| Stromme syndrome | 2 | Nov 24, 2020 |
| Stuttering, familial persistent, 1 | 2 | Nov 24, 2020 |
| Subcutaneous lipoma | 1 | Dec 8, 2017 |
| Subcutaneous neurofibroma | 3 | Nov 12, 2016 |
| Subcutaneous nodule | 1 | Nov 12, 2016 |
| Succinate-semialdehyde dehydrogenase deficiency | 1 | Nov 24, 2020 |
| Sudden cardiac death | 3 | Nov 12, 2016 |
| Sulfite oxidase deficiency | 1 | Nov 24, 2020 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | 1 | Nov 24, 2020 |
| Supernumerary ribs | 1 | Nov 12, 2016 |
| Sweeney-Cox syndrome | 3 | Nov 24, 2020 |
| Syncope | 5 | Nov 12, 2016 |
| Syndactyly | 1 | Nov 12, 2016 |
| Syndromic X-linked intellectual disability Raymond type | 3 | Nov 24, 2020 |
| Syndromic X-linked intellectual disability Siderius type | 2 | Nov 24, 2020 |
| Syndromic X-linked intellectual disability Snyder type | 1 | Nov 24, 2020 |
| Syndromic multisystem autoimmune disease due to ITCH deficiency | 2 | Nov 24, 2020 |
| Synophrys | 4 | Dec 8, 2017 |
| Synpolydactyly type 1 | 2 | Nov 24, 2020 |
| Systemic lupus erythematosus | 2 | Nov 24, 2020 |
| TCF12-related craniosynostosis | 1 | Nov 24, 2020 |
| Tachycardia | 1 | Dec 8, 2017 |
| Talipes cavus equinovarus | 1 | Nov 12, 2016 |
| Tall stature | 9 | Apr 8, 2020 |
| Tapered finger | 1 | Dec 8, 2017 |
| Tay-Sachs disease | 4 | Nov 24, 2020 |
| Teebi hypertelorism syndrome | 1 | Nov 24, 2020 |
| Telangiectasia of the skin | 2 | Dec 8, 2017 |
| Telangiectasia, hereditary hemorrhagic, type 2 | 3 | Nov 24, 2020 |
| Telecanthus | 3 | Dec 8, 2017 |
| Temporal cortical atrophy | 1 | Dec 8, 2017 |
| Tension-type headache | 1 | Dec 8, 2017 |
| Tented upper lip vermilion | 1 | Dec 8, 2017 |
| Teratoma | 2 | Dec 8, 2017 |
| Tetany | 1 | Nov 12, 2016 |
| Tetralogy of Fallot | 10 | Nov 24, 2020 |
| Thick eyebrow | 2 | Dec 8, 2017 |
| Thick vermilion border | 3 | Dec 8, 2017 |
| Thin skin | 1 | Dec 8, 2017 |
| Thin upper lip vermilion | 1 | Nov 12, 2016 |
| Thin vermilion border | 1 | Dec 8, 2017 |
| Thoracic kyphoscoliosis | 2 | Nov 12, 2016 |
| Thoracic scoliosis | 5 | Dec 8, 2017 |
| Thoracolumbar scoliosis | 5 | Dec 8, 2017 |
| Thrombocythemia 1 | 1 | Nov 24, 2020 |
| Thrombocytopenia | 4 | Dec 8, 2017 |
| Thrombocytopenia 2 | 1 | Nov 24, 2020 |
| Thromboembolism | 1 | Dec 8, 2017 |
| Thumb deformity | 3 | Dec 8, 2017 |
| Thyroid adenoma | 1 | Nov 12, 2016 |
| Thyroid cancer, nonmedullary, 1 | 1 | Nov 24, 2020 |
| Thyroid cancer, nonmedullary, 2 | 1 | Nov 24, 2020 |
| Tibial muscular dystrophy | 29 | Nov 24, 2020 |
| Tibial pseudarthrosis | 1 | Dec 8, 2017 |
| Tietz syndrome | 2 | Nov 24, 2020 |
| Timothy syndrome | 4 | Nov 24, 2020 |
| Tip-toe gait | 1 | Dec 8, 2017 |
| Toe syndactyly | 3 | Dec 8, 2017 |
| Tongue fasciculations | 1 | Nov 12, 2016 |
| Tooth malposition | 1 | Nov 12, 2016 |
| Toriello-Lacassie-Droste syndrome | 1 | Nov 24, 2020 |
| Torsion dystonia 6 | 2 | Nov 24, 2020 |
| Torticollis | 1 | Dec 8, 2017 |
| Townes-Brocks syndrome 1 | 1 | Nov 24, 2020 |
| Transient ischemic attack | 2 | Dec 8, 2017 |
| Treacher Collins syndrome 1 | 2 | Nov 24, 2020 |
| Tremor | 9 | Dec 8, 2017 |
| Tremor, hereditary essential, 5 | 2 | Nov 24, 2020 |
| Triangular face | 7 | Dec 8, 2017 |
| Trichohepatoenteric syndrome 1 | 1 | Nov 24, 2020 |
| Trichomegaly-retina pigmentary degeneration-dwarfism syndrome | 1 | Nov 24, 2020 |
| Trichorhinophalangeal dysplasia type I | 1 | Nov 24, 2020 |
| Tricuspid regurgitation | 2 | Dec 8, 2017 |
| Trident hand | 2 | Nov 12, 2016 |
| Truncal obesity | 2 | Nov 12, 2016 |
| Tumoral calcinosis, hyperphosphatemic, familial, 2 | 1 | Nov 24, 2020 |
| Type 2 diabetes mellitus | 8 | Nov 24, 2020 |
| Tyrosinase-negative oculocutaneous albinism | 7 | Nov 24, 2020 |
| Tyrosinase-positive oculocutaneous albinism | 1 | Nov 24, 2020 |
| UDPglucose-4-epimerase deficiency | 1 | Nov 24, 2020 |
| UV-sensitive syndrome 3 | 1 | Nov 24, 2020 |
| Ullrich congenital muscular dystrophy 1A | 7 | Nov 24, 2020 |
| Ulnar bowing | 2 | Nov 12, 2016 |
| Ulnar deviation of the wrist | 1 | Nov 12, 2016 |
| Ulnar-mammary syndrome | 1 | Nov 24, 2020 |
| Umbilical hernia | 3 | Dec 8, 2017 |
| Underdeveloped nasal alae | 1 | Nov 12, 2016 |
| Unilateral cryptorchidism | 1 | Dec 8, 2017 |
| Unilateral deafness | 1 | Dec 8, 2017 |
| Unilateral polymicrogyria | 1 | Dec 8, 2017 |
| Unilateral renal agenesis | 2 | Dec 8, 2017 |
| Unsteady gait | 1 | Dec 8, 2017 |
| Upper limb undergrowth | 3 | Nov 12, 2016 |
| Upslanted palpebral fissure | 1 | Nov 12, 2016 |
| Upturned corners of mouth | 1 | Dec 8, 2017 |
| Urinary bladder sphincter dysfunction | 1 | Dec 8, 2017 |
| Urticaria | 2 | Nov 12, 2016 |
| Usher syndrome type 1 | 1 | Nov 24, 2020 |
| Usher syndrome type 1D | 8 | Nov 24, 2020 |
| Usher syndrome type 2A | 25 | Nov 24, 2020 |
| Usher syndrome, type 1M | 1 | Nov 24, 2020 |
| Uterine leiomyoma | 2 | Dec 8, 2017 |
| Uveal coloboma-cleft lip and palate-intellectual disability | 1 | Nov 24, 2020 |
| Vaginal hydrocele | 1 | Dec 8, 2017 |
| Van der Woude syndrome 2 | 1 | Nov 24, 2020 |
| Vanishing white matter disease | 4 | Nov 24, 2020 |
| Varicose disease | 1 | Dec 8, 2017 |
| Vascular dilatation | 5 | Dec 8, 2017 |
| Vasculitis | 2 | Dec 8, 2017 |
| Velopharyngeal insufficiency | 1 | Dec 8, 2017 |
| Venous malformation | 3 | Dec 8, 2017 |
| Ventricular arrhythmia | 1 | Dec 8, 2017 |
| Ventricular fibrillation | 3 | Dec 8, 2017 |
| Ventricular hypertrophy | 4 | Dec 8, 2017 |
| Ventricular septal defect | 9 | Apr 8, 2020 |
| Ventricular tachycardia | 3 | Dec 8, 2017 |
| Ventriculomegaly | 7 | Dec 8, 2017 |
| Vertigo | 5 | Dec 8, 2017 |
| Very long chain acyl-CoA dehydrogenase deficiency | 1 | Nov 24, 2020 |
| Vesicoureteral reflux | 3 | Apr 8, 2020 |
| Vesicoureteral reflux 2 | 1 | Nov 24, 2020 |
| Visual field defect | 1 | Nov 12, 2016 |
| Visual impairment | 14 | Dec 8, 2017 |
| Visual loss | 5 | Nov 12, 2016 |
| Vitamin D hydroxylation-deficient rickets, type 1B | 1 | Nov 24, 2020 |
| Vitelliform macular dystrophy 2 | 5 | Nov 24, 2020 |
| Vitiligo | 1 | Nov 12, 2016 |
| Vitreoretinopathy | 1 | Dec 8, 2017 |
| Vomiting | 2 | Dec 8, 2017 |
| Von Hippel-Lindau syndrome | 1 | Nov 24, 2020 |
| Waardenburg syndrome | 1 | Nov 12, 2016 |
| Waardenburg syndrome type 4C | 1 | Nov 24, 2020 |
| Waddling gait | 2 | Nov 12, 2016 |
| Wagner syndrome | 2 | Nov 24, 2020 |
| Warburg-cinotti syndrome | 1 | Nov 24, 2020 |
| Weaver syndrome | 1 | Nov 24, 2020 |
| Webbed neck | 2 | Nov 12, 2016 |
| Werner syndrome | 2 | Nov 24, 2020 |
| Wide anterior fontanel | 3 | Dec 8, 2017 |
| Wide cranial sutures | 1 | Dec 8, 2017 |
| Wide intermamillary distance | 4 | Nov 12, 2016 |
| Wide mouth | 3 | Dec 8, 2017 |
| Wide nasal bridge | 4 | Dec 8, 2017 |
| Wieacker-Wolff syndrome | 4 | Nov 24, 2020 |
| Wiedemann-Steiner syndrome | 3 | Nov 24, 2020 |
| Williams syndrome | 4 | Nov 24, 2020 |
| Wilms tumor 1 | 2 | Nov 24, 2020 |
| Wilson disease | 10 | Nov 24, 2020 |
| Wolff-Parkinson-White pattern | 5 | Nov 24, 2020 |
| X-linked Alport syndrome | 9 | Nov 3, 2021 |
| X-linked agammaglobulinemia with growth hormone deficiency | 1 | Nov 24, 2020 |
| X-linked dominant chondrodysplasia, Chassaing-Lacombe type | 1 | Nov 24, 2020 |
| X-linked hydrocephalus syndrome | 1 | Nov 24, 2020 |
| X-linked ichthyosis with steryl-sulfatase deficiency | 1 | Nov 24, 2020 |
| X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | 1 | Nov 24, 2020 |
| X-linked intellectual disability with marfanoid habitus | 4 | Nov 24, 2020 |
| X-linked intellectual disability, Stocco dos Santos type | 2 | Nov 24, 2020 |
| X-linked intellectual disability-short stature-overweight syndrome | 1 | Nov 24, 2020 |
| X-linked recessive nephrolithiasis with renal failure | 1 | Nov 24, 2020 |
| Xeroderma pigmentosum group B | 1 | Nov 24, 2020 |
| Xeroderma pigmentosum, group D | 2 | Nov 24, 2020 |
| Xeroderma pigmentosum, group G | 1 | Nov 24, 2020 |
| Yao syndrome | 1 | Nov 24, 2020 |
| Yunis-Varon syndrome | 7 | Nov 24, 2020 |
| ZTTK syndrome | 1 | Nov 24, 2020 |
| Zimmermann-Laband syndrome 1 | 2 | Nov 24, 2020 |
| Zimmermann-Laband syndrome 2 | 1 | Nov 24, 2020 |
| alpha Thalassemia | 2 | Nov 24, 2020 |
| alterations of great arteries and veins | 1 | Nov 12, 2016 |
| autistic features | 1 | Nov 12, 2016 |
| dystrophia | 1 | Nov 12, 2016 |
| not provided | 37 | Nov 24, 2020 |
| von Willebrand disease type 2 | 2 | Nov 24, 2020 |
