2-3 toe syndactyly | 2 | Jul 7, 2023 |
2-hydroxyglutaric aciduria | 2 | Mar 9, 2020 |
3-methylglutaconic aciduria, type VIIB | 2 | May 4, 2017 |
8q24.3 microdeletion syndrome | 3 | Jul 7, 2023 |
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 4 | Sep 9, 2021 |
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 1 | May 4, 2017 |
ALG1-congenital disorder of glycosylation | 2 | Mar 1, 2017 |
ALG12-congenital disorder of glycosylation | 2 | Jun 10, 2021 |
Abnormal facial shape | 10 | Jul 7, 2023 |
Abnormal testis morphology | 1 | Jul 7, 2023 |
Abnormality of pain sensation | 1 | May 18, 2022 |
Abnormality of the face | 2 | Jul 7, 2023 |
Abnormality of the outer ear | 1 | Jul 12, 2023 |
Absent/hypoplastic coccyx | 2 | Jul 7, 2023 |
Acquired polycythemia vera | 1 | Sep 9, 2021 |
Acrocephalosyndactyly type I | 1 | Nov 26, 2019 |
Acromesomelic dysplasia 3 | 1 | Mar 9, 2020 |
Acute intermittent porphyria | 1 | Sep 26, 2022 |
Adams-Oliver syndrome 3 | 1 | Nov 28, 2022 |
Adams-Oliver syndrome 6 | 1 | Jun 17, 2020 |
Adrenoleukodystrophy | 1 | Mar 2, 2021 |
Aggressive behavior | 1 | May 18, 2022 |
Aicardi-Goutieres syndrome 7 | 2 | Nov 28, 2022 |
Alagille syndrome due to a JAG1 point mutation | 2 | Nov 28, 2022 |
Alagille syndrome due to a NOTCH2 point mutation | 1 | Aug 16, 2021 |
Alkuraya-Kucinskas syndrome | 2 | Oct 21, 2020 |
Amelogenesis imperfecta hypomaturation type 2A2 | 1 | Nov 28, 2022 |
Amelogenesis imperfecta type 1A | 1 | Jul 11, 2023 |
Amelogenesis imperfecta type 1G | 1 | Sep 9, 2021 |
Amyotrophic lateral sclerosis type 18 | 1 | Nov 28, 2022 |
Aniridia 1 | 1 | Jul 30, 2018 |
Anterior segment dysgenesis 3 | 1 | Jan 8, 2021 |
Anxiety | 5 | Jul 11, 2023 |
Aplasia/Hypoplasia of the macula | 1 | Jul 7, 2023 |
Apraxia | 1 | Jul 7, 2023 |
Arrhinia with choanal atresia and microphthalmia syndrome | 1 | Nov 28, 2022 |
Arrhythmogenic right ventricular dysplasia 10 | 1 | Sep 9, 2021 |
Arrhythmogenic right ventricular dysplasia 9 | 8 | Jan 8, 2021 |
Arthritis | 2 | Jul 7, 2023 |
Arthrogryposis multiplex congenita 3, myogenic type | 1 | Jun 10, 2021 |
Arthrogryposis multiplex congenita 5 | 2 | Jul 7, 2023 |
Arthrogryposis, distal, type 2B2 | 1 | Jun 10, 2021 |
Astigmatism | 1 | May 18, 2022 |
Ataxia-telangiectasia syndrome | 3 | Sep 26, 2022 |
Atrial septal defect | 4 | Jul 11, 2023 |
Atrial septal defect 3 | 2 | Mar 9, 2020 |
Atrial septal defect 9 | 1 | Mar 2, 2021 |
Atrioventricular septal defect, susceptibility to, 2 | 1 | Nov 5, 2020 |
Atrophia bulborum hereditaria | 1 | May 4, 2017 |
Attention deficit hyperactivity disorder | 11 | Jul 11, 2023 |
Atypical behavior | 1 | Jul 7, 2023 |
Au-Kline syndrome | 3 | Sep 9, 2021 |
Autism | 16 | Jul 11, 2023 |
Autism spectrum disorder due to AUTS2 deficiency | 1 | May 4, 2017 |
Autism, susceptibility to, 17 | 1 | May 4, 2017 |
Autism, susceptibility to, X-linked 4 | 1 | Sep 9, 2021 |
Autistic behavior | 8 | Jul 11, 2023 |
Autoimmune lymphoproliferative syndrome type 2A | 1 | Sep 9, 2021 |
Autosomal dominant Charcot-Marie-Tooth disease type 2W | 1 | Jan 16, 2024 |
Autosomal dominant Opitz G/BBB syndrome | 1 | Mar 26, 2021 |
Autosomal dominant centronuclear myopathy | 1 | Sep 9, 2021 |
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 1 | May 4, 2017 |
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 1 | Dec 9, 2019 |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 1 | Jul 11, 2023 |
Autosomal recessive distal spinal muscular atrophy 1 | 1 | Oct 21, 2020 |
Autosomal recessive limb-girdle muscular dystrophy type 2A | 2 | Jul 17, 2018 |
Autosomal recessive limb-girdle muscular dystrophy type 2B | 1 | Jul 11, 2023 |
Autosomal recessive limb-girdle muscular dystrophy type 2I | 1 | Sep 15, 2023 |
Autosomal recessive limb-girdle muscular dystrophy type 2K | 2 | Oct 8, 2024 |
Autosomal recessive limb-girdle muscular dystrophy type 2Q | 4 | Sep 9, 2021 |
Autosomal recessive limb-girdle muscular dystrophy type 2T | 2 | May 4, 2017 |
Autosomal recessive nonsyndromic hearing loss 18B | 2 | Sep 9, 2021 |
Autosomal recessive nonsyndromic hearing loss 1A | 3 | Sep 9, 2021 |
Autosomal recessive nonsyndromic hearing loss 77 | 2 | Sep 9, 2021 |
Autosomal recessive spinocerebellar ataxia 15 | 2 | Jul 7, 2023 |
Autosomal recessive spinocerebellar ataxia 20 | 2 | May 4, 2017 |
Axenfeld-Rieger syndrome type 3 | 2 | Mar 26, 2021 |
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | 1 | Sep 2, 2022 |
Baraitser-Winter syndrome 1 | 1 | May 18, 2022 |
Baraitser-winter syndrome 2 | 1 | Jul 30, 2019 |
Bartter disease type 3 | 2 | Jul 30, 2024 |
Beck-Fahrner syndrome | 1 | Jul 11, 2023 |
Bethlem myopathy 1A | 1 | Nov 12, 2018 |
Bleeding disorder, platelet-type, 24 | 1 | Aug 16, 2021 |
Blepharophimosis - intellectual disability syndrome, SBBYS type | 1 | Jun 17, 2020 |
Bohring-Opitz syndrome | 1 | Mar 9, 2020 |
Borjeson-Forssman-Lehmann syndrome | 1 | May 4, 2017 |
Bradycardia | 1 | Jul 7, 2023 |
Brain malformations with or without urinary tract defects | 1 | Jul 7, 2023 |
Brain small vessel disease 1 with or without ocular anomalies | 1 | Oct 21, 2020 |
Branchiooculofacial syndrome | 2 | Oct 21, 2020 |
Breast-ovarian cancer, familial, susceptibility to, 1 | 10 | Oct 26, 2020 |
Breast-ovarian cancer, familial, susceptibility to, 2 | 17 | Nov 28, 2022 |
Broad eyebrow | 1 | Jul 11, 2023 |
Brugada syndrome 1 | 1 | Aug 16, 2021 |
Bulbous nose | 1 | Jul 11, 2023 |
C syndrome | 1 | Aug 16, 2021 |
CBL-related disorder | 2 | Mar 6, 2020 |
CHARGE syndrome | 12 | May 18, 2022 |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 3 | May 24, 2018 |
Cardiac arrhythmia | 2 | Jul 11, 2023 |
Cardiac arrhythmia, ankyrin-B-related | 1 | Apr 17, 2024 |
Cardiac, facial, and digital anomalies with developmental delay | 1 | Mar 9, 2020 |
Cardiac-urogenital syndrome | 2 | Jun 17, 2020 |
Cardiofaciocutaneous syndrome 1 | 2 | Mar 2, 2021 |
Cardiomyopathy, dilated, 2D | 2 | Aug 16, 2021 |
Cardiospondylocarpofacial syndrome | 2 | Jun 17, 2020 |
Cataract 18 | 2 | Jul 6, 2017 |
Catecholaminergic polymorphic ventricular tachycardia 1 | 1 | May 18, 2022 |
Catel-Manzke syndrome | 1 | Oct 21, 2020 |
Central core myopathy | 4 | May 18, 2022 |
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | 1 | Jan 25, 2024 |
Cerebellar ataxia | 5 | Jul 7, 2023 |
Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 1 | May 24, 2019 |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 1 | Jan 25, 2024 |
Cerebral cavernous malformation | 1 | May 24, 2019 |
Cerebral cavernous malformation 2 | 1 | Nov 28, 2022 |
Cerebral white matter hypoplasia | 1 | Jul 7, 2023 |
Cerebro-costo-mandibular syndrome | 1 | Feb 21, 2023 |
Cerebrooculofacioskeletal syndrome 2 | 2 | Oct 21, 2020 |
Charcot-Marie-Tooth disease axonal type 2N | 1 | Jul 30, 2019 |
Charcot-Marie-Tooth disease axonal type 2T | 2 | May 4, 2017 |
Charcot-Marie-Tooth disease axonal type 2X | 2 | May 20, 2016 |
Charcot-Marie-Tooth disease type 2A2 | 2 | Sep 26, 2022 |
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 1 | Sep 26, 2022 |
Charcot-Marie-Tooth disease, demyelinating, IIA 1H | 1 | May 17, 2023 |
Chiari malformation | 1 | Jul 7, 2023 |
Childhood apraxia of speech | 1 | Jul 7, 2023 |
Childhood onset GLUT1 deficiency syndrome 2 | 3 | Mar 6, 2020 |
Christianson syndrome | 1 | Nov 28, 2022 |
Chromosome 2q32-q33 deletion syndrome | 3 | Nov 28, 2022 |
Chudley-McCullough syndrome | 1 | Jul 11, 2023 |
Ciliary dyskinesia, primary, 37 | 1 | Sep 9, 2021 |
Cleft lip | 1 | May 18, 2022 |
Cleft palate | 1 | May 18, 2022 |
Clinodactyly | 3 | Jul 7, 2023 |
Clubfoot | 1 | Jul 12, 2023 |
Coffin-Lowry syndrome | 1 | Sep 9, 2021 |
Coffin-Siris syndrome 1 | 6 | Aug 16, 2021 |
Coffin-Siris syndrome 6 | 1 | Nov 9, 2021 |
Cognitive impairment | 2 | Jul 11, 2023 |
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 1 | Jul 7, 2023 |
Cognitive regression | 1 | Jul 11, 2023 |
Colitis | 1 | Jul 11, 2023 |
Colorectal cancer | 1 | Sep 26, 2022 |
Colorectal cancer, hereditary nonpolyposis, type 2 | 3 | Dec 9, 2019 |
Combined deficiency of sialidase AND beta galactosidase | 1 | Nov 8, 2017 |
Complement component 6 deficiency | 1 | May 18, 2022 |
Complement component 7 deficiency | 1 | May 18, 2022 |
Complex cortical dysplasia with other brain malformations 5 | 1 | Jul 7, 2023 |
Complex cortical dysplasia with other brain malformations 6 | 2 | Sep 9, 2021 |
Complex cortical dysplasia with other brain malformations 7 | 2 | Mar 26, 2021 |
Complex lethal osteochondrodysplasia | 1 | Oct 18, 2021 |
Compulsive behaviors | 2 | Jul 7, 2023 |
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | 1 | Mar 9, 2020 |
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 1 | Sep 9, 2021 |
Congenital central hypoventilation | 2 | Nov 9, 2021 |
Congenital contractures of the limbs and face, hypotonia, and developmental delay | 1 | May 4, 2017 |
Congenital factor VII deficiency | 1 | May 18, 2022 |
Congenital fibrosis of extraocular muscles type 1 | 2 | Jul 7, 2023 |
Congenital heart defects and ectodermal dysplasia | 1 | Mar 2, 2021 |
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 1 | May 4, 2017 |
Congenital heart defects, multiple types, 2 | 1 | Nov 28, 2022 |
Congenital heart defects, multiple types, 5 | 1 | Sep 9, 2021 |
Congenital laryngomalacia | 1 | Jul 7, 2023 |
Congenital multicore myopathy with external ophthalmoplegia | 1 | Nov 9, 2021 |
Congenital muscular hypertrophy-cerebral syndrome | 2 | Jun 17, 2020 |
Congenital myopathy 4B, autosomal recessive | 1 | Mar 9, 2020 |
Congenital myotonia, autosomal dominant form | 3 | May 18, 2022 |
Cornelia de Lange syndrome 1 | 1 | Jun 10, 2021 |
Cornelia de Lange syndrome 3 | 1 | Mar 3, 2016 |
Cornelia de Lange syndrome 5 | 2 | May 4, 2017 |
Coronary artery atherosclerosis | 2 | Jul 7, 2023 |
Corticobasal syndrome | 2 | Oct 28, 2019 |
Cowden syndrome 1 | 1 | Dec 9, 2019 |
Cowden syndrome 5 | 1 | Sep 9, 2021 |
Cranial asymmetry | 1 | Jul 11, 2023 |
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | 1 | Oct 18, 2021 |
Craniofrontonasal syndrome | 1 | Jun 17, 2020 |
Craniosynostosis 4 | 1 | Aug 16, 2021 |
Creatine transporter deficiency | 1 | Sep 2, 2022 |
Cystic fibrosis | 8 | May 24, 2018 |
Cystinuria | 2 | Sep 26, 2022 |
DDX41-related hematologic malignancy predisposition syndrome | 1 | Jul 6, 2017 |
DYRK1A-related intellectual disability syndrome | 2 | May 4, 2017 |
Decreased body weight | 1 | May 18, 2022 |
Decreased response to growth hormone stimulation test | 1 | Jul 7, 2023 |
Deeah syndrome | 1 | Aug 16, 2021 |
Deeply set eye | 1 | Jul 11, 2023 |
Delayed gross motor development | 1 | May 18, 2022 |
Delayed skeletal maturation | 2 | Jul 7, 2023 |
Delayed speech and language development | 30 | Jul 11, 2023 |
Dent disease type 2 | 1 | May 24, 2019 |
Dental crowding | 1 | Jul 11, 2023 |
Dentinogenesis imperfecta type 2 | 1 | Jul 11, 2023 |
Desmosterolosis | 2 | Mar 9, 2020 |
Developmental and epileptic encephalopathy 100 | 1 | Jul 7, 2023 |
Developmental and epileptic encephalopathy 106 | 1 | Jul 11, 2023 |
Developmental and epileptic encephalopathy 6B | 2 | Nov 9, 2021 |
Developmental and epileptic encephalopathy 94 | 2 | May 4, 2017 |
Developmental and epileptic encephalopathy 97 | 1 | Jul 7, 2023 |
Developmental and epileptic encephalopathy, 1 | 2 | Dec 21, 2017 |
Developmental and epileptic encephalopathy, 11 | 5 | Mar 6, 2023 |
Developmental and epileptic encephalopathy, 13 | 6 | Mar 6, 2023 |
Developmental and epileptic encephalopathy, 14 | 2 | May 24, 2018 |
Developmental and epileptic encephalopathy, 17 | 1 | Jan 25, 2024 |
Developmental and epileptic encephalopathy, 19 | 1 | Mar 3, 2016 |
Developmental and epileptic encephalopathy, 2 | 1 | Dec 11, 2017 |
Developmental and epileptic encephalopathy, 26 | 1 | Sep 9, 2021 |
Developmental and epileptic encephalopathy, 27 | 2 | Jul 20, 2017 |
Developmental and epileptic encephalopathy, 31A | 1 | Mar 3, 2016 |
Developmental and epileptic encephalopathy, 38 | 2 | Sep 9, 2021 |
Developmental and epileptic encephalopathy, 4 | 2 | Jul 7, 2023 |
Developmental and epileptic encephalopathy, 42 | 4 | Jan 25, 2024 |
Developmental and epileptic encephalopathy, 46 | 1 | Jul 30, 2019 |
Developmental and epileptic encephalopathy, 47 | 1 | May 4, 2017 |
Developmental and epileptic encephalopathy, 49 | 2 | Feb 6, 2017 |
Developmental and epileptic encephalopathy, 5 | 1 | May 18, 2022 |
Developmental and epileptic encephalopathy, 54 | 3 | May 18, 2022 |
Developmental and epileptic encephalopathy, 58 | 1 | Feb 5, 2018 |
Developmental and epileptic encephalopathy, 62 | 1 | Jul 7, 2023 |
Developmental and epileptic encephalopathy, 65 | 1 | Jul 31, 2019 |
Developmental and epileptic encephalopathy, 69 | 3 | Nov 28, 2022 |
Developmental and epileptic encephalopathy, 7 | 4 | Jul 7, 2023 |
Developmental and epileptic encephalopathy, 78 | 1 | Jul 7, 2023 |
Developmental and epileptic encephalopathy, 82 | 2 | Jul 7, 2023 |
Developmental and epileptic encephalopathy, 9 | 1 | Nov 28, 2022 |
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | 1 | Nov 28, 2022 |
Developmental regression | 1 | Jul 7, 2023 |
Diabetes mellitus, permanent neonatal 4 | 1 | Sep 9, 2021 |
Dias-Logan syndrome | 1 | Sep 9, 2021 |
Diets-Jongmans syndrome | 1 | Nov 28, 2022 |
Dilated cardiomyopathy 1BB | 2 | Jul 6, 2017 |
Dilated cardiomyopathy 1G | 2 | Sep 15, 2023 |
Dilated cardiomyopathy 1R | 1 | Mar 9, 2020 |
Donnai-Barrow syndrome | 1 | May 18, 2022 |
Dopa-responsive dystonia due to sepiapterin reductase deficiency | 2 | Mar 6, 2020 |
Duane-radial ray syndrome | 1 | Dec 9, 2019 |
Dyslexia | 2 | Jul 11, 2023 |
Dysmorphism | 1 | Sep 9, 2021 |
Dystonic disorder | 1 | Jul 7, 2023 |
Early-onset dementia of unclear type | 5 | Oct 28, 2019 |
Early-onset generalized limb-onset dystonia | 1 | May 24, 2018 |
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 3 | Jul 7, 2023 |
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | 2 | Mar 9, 2020 |
Ehlers-Danlos syndrome, spondylodysplastic type, 1 | 2 | Jan 25, 2024 |
Ellis-van Creveld syndrome | 2 | Mar 9, 2020 |
Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 1 | May 18, 2022 |
Encephalomalacia | 2 | Jul 7, 2023 |
Encephalopathy due to GLUT1 deficiency | 3 | Jan 8, 2021 |
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 1 | May 24, 2018 |
Encephalopathy, acute, infection-induced, susceptibility to, 9 | 2 | Mar 26, 2021 |
Epicanthus | 2 | Jul 11, 2023 |
Epilepsy, familial focal, with variable foci 1 | 2 | Sep 2, 2022 |
Epilepsy, idiopathic generalized, susceptibility to, 15 | 1 | May 24, 2019 |
Epileptic encephalopathy, infantile or early childhood, 3 | 1 | Jul 7, 2023 |
Epiphyseal dysplasia, multiple, 3 | 2 | Mar 9, 2020 |
Episodic ataxia type 2 | 5 | Jan 25, 2024 |
Esotropia | 1 | Jul 7, 2023 |
Expressive language delay | 1 | Jul 11, 2023 |
FG syndrome 1 | 1 | Nov 12, 2018 |
Fabry disease | 2 | Aug 2, 2019 |
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | 1 | Oct 21, 2020 |
Failure to thrive | 4 | Jul 11, 2023 |
Falls | 1 | Jul 11, 2023 |
Familial adenomatous polyposis 1 | 1 | Jul 17, 2018 |
Familial adenomatous polyposis 2 | 7 | Apr 7, 2020 |
Familial cancer of breast | 7 | Sep 26, 2022 |
Familial episodic pain syndrome with predominantly upper body involvement | 1 | Jul 30, 2019 |
Familial hemophagocytic lymphohistiocytosis 2 | 1 | May 24, 2019 |
Familial hypobetalipoproteinemia 1 | 1 | Dec 9, 2019 |
Familial infantile myasthenia | 2 | Mar 9, 2020 |
Familial isolated deficiency of vitamin E | 1 | May 4, 2017 |
Familial medullary thyroid carcinoma | 3 | Dec 9, 2019 |
Familial renal glucosuria | 1 | Sep 9, 2021 |
Fanconi anemia complementation group N | 1 | Mar 9, 2020 |
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 1 | Mar 9, 2020 |
Faundes-Banka syndrome | 1 | Aug 1, 2024 |
Feingold syndrome type 1 | 1 | Jul 11, 2023 |
Finger clinodactyly | 1 | Jul 7, 2023 |
Finnish congenital nephrotic syndrome | 3 | Jan 25, 2024 |
Floating-Harbor syndrome | 1 | May 24, 2019 |
Focal impaired awareness seizure | 1 | Jul 7, 2023 |
Focal segmental glomerulosclerosis 8 | 1 | Sep 26, 2022 |
Focal segmental glomerulosclerosis and neurodevelopmental syndrome | 1 | Nov 28, 2022 |
Frontotemporal dementia | 7 | Oct 28, 2019 |
Fucosidosis | 1 | Jul 30, 2019 |
GM1 gangliosidosis type 2 | 2 | May 4, 2017 |
Generalized epilepsy with febrile seizures plus, type 2 | 1 | Jun 10, 2021 |
Generalized epilepsy-paroxysmal dyskinesia syndrome | 1 | Aug 3, 2018 |
Generalized muscle weakness | 1 | Sep 2, 2022 |
Genitopatellar syndrome | 1 | Jun 17, 2020 |
Gillespie syndrome | 2 | Sep 9, 2021 |
Global developmental delay | 9 | Jul 11, 2023 |
Glycogen storage disease, type II | 2 | Jun 17, 2020 |
Gray matter heterotopia | 1 | Jul 7, 2023 |
Greig cephalopolysyndactyly syndrome | 2 | Jul 30, 2019 |
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 2 | Mar 6, 2020 |
Hajdu-Cheney syndrome | 2 | Mar 9, 2020 |
Hb SS disease | 1 | May 24, 2018 |
Hearing impairment | 3 | Jul 11, 2023 |
Heart defect - tongue hamartoma - polysyndactyly syndrome | 2 | Jun 10, 2021 |
Heimler syndrome 1 | 2 | Nov 28, 2022 |
Hereditary factor IX deficiency disease | 1 | Sep 9, 2021 |
Hereditary spastic paraplegia 11 | 2 | Nov 12, 2018 |
Hereditary spastic paraplegia 47 | 2 | Mar 6, 2020 |
Hereditary spastic paraplegia 7 | 1 | Sep 15, 2023 |
Hereditary spastic paraplegia 9A | 1 | Feb 28, 2018 |
Hereditary spherocytosis type 1 | 1 | Aug 16, 2021 |
Hereditary spherocytosis type 4 | 1 | Jul 6, 2017 |
High palate | 1 | Jul 11, 2023 |
Hip dislocation | 1 | Jul 11, 2023 |
Hirschsprung disease, susceptibility to, 1 | 2 | Nov 28, 2022 |
Hogue-Janssens syndrome 1 | 1 | Mar 3, 2016 |
Holoprosencephaly 3 | 1 | Mar 9, 2020 |
Holt-Oram syndrome | 1 | Mar 9, 2020 |
Houge-Janssens syndrome 2 | 2 | Feb 16, 2024 |
Hydrocephalus, nonsyndromic, autosomal recessive 2 | 2 | Jun 17, 2020 |
Hyperactivity | 1 | Jul 11, 2023 |
Hypercholesterolemia, autosomal dominant, type B | 2 | Sep 9, 2021 |
Hypercholesterolemia, familial, 1 | 5 | Apr 7, 2020 |
Hyperekplexia 3 | 1 | Sep 26, 2022 |
Hyperinsulinemic hypoglycemia, familial, 1 | 1 | Nov 28, 2022 |
Hyperphosphatasia with intellectual disability syndrome 2 | 2 | Mar 9, 2020 |
Hypertensive disorder | 2 | Jul 7, 2023 |
Hypertonia | 2 | Jul 11, 2023 |
Hypertrophic cardiomyopathy 1 | 7 | Oct 21, 2020 |
Hypertrophic cardiomyopathy 4 | 10 | Nov 28, 2022 |
Hypogonadotropic hypogonadism 1 with or without anosmia | 1 | May 24, 2019 |
Hypospadias | 3 | Jul 7, 2023 |
Hypotonia | 12 | Jul 11, 2023 |
Hypotonia, ataxia, and delayed development syndrome | 2 | Mar 6, 2020 |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 2 | May 4, 2017 |
Immunodeficiency 14b, autosomal recessive | 1 | May 18, 2022 |
Immunodeficiency 67 | 1 | May 18, 2022 |
Immunodeficiency 91 and hyperinflammation | 2 | Sep 15, 2023 |
Imperforate anus | 2 | Jul 7, 2023 |
Infantile convulsions and choreoathetosis | 1 | Nov 26, 2019 |
Infantile liver failure syndrome 2 | 2 | Aug 1, 2024 |
Infantile liver failure syndrome 3 | 1 | Oct 26, 2020 |
Infantile nephronophthisis | 2 | May 24, 2019 |
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 2 | Nov 28, 2022 |
Intellectual developmental disorder with dysmorphic facies and ptosis | 2 | Mar 9, 2020 |
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 1 | Sep 9, 2021 |
Intellectual developmental disorder with severe speech and ambulation defects | 1 | Jul 31, 2019 |
Intellectual developmental disorder, autosomal dominant 66 | 1 | Oct 28, 2022 |
Intellectual disability | 1 | May 18, 2022 |
Intellectual disability (severe) | 1 | Jun 27, 2016 |
Intellectual disability, X-linked 1 | 1 | Jul 30, 2019 |
Intellectual disability, X-linked 100 | 1 | May 18, 2022 |
Intellectual disability, X-linked 101 | 1 | Mar 3, 2016 |
Intellectual disability, X-linked 102 | 3 | Sep 9, 2021 |
Intellectual disability, X-linked 103 | 1 | Mar 6, 2020 |
Intellectual disability, X-linked 107 | 1 | Nov 28, 2022 |
Intellectual disability, X-linked 30 | 1 | Jul 30, 2019 |
Intellectual disability, X-linked 90 | 1 | May 4, 2017 |
Intellectual disability, X-linked 99, syndromic, female-restricted | 1 | Jun 17, 2020 |
Intellectual disability, X-linked syndromic, Turner type | 3 | May 18, 2022 |
Intellectual disability, X-linked, syndromic 33 | 1 | Sep 9, 2021 |
Intellectual disability, X-linked, with or without seizures, arx-related | 1 | Dec 21, 2017 |
Intellectual disability, autosomal dominant 11 | 1 | Nov 28, 2022 |
Intellectual disability, autosomal dominant 13 | 4 | Nov 28, 2022 |
Intellectual disability, autosomal dominant 14 | 1 | Mar 9, 2020 |
Intellectual disability, autosomal dominant 16 | 2 | Oct 21, 2020 |
Intellectual disability, autosomal dominant 20 | 2 | Jul 11, 2023 |
Intellectual disability, autosomal dominant 22 | 2 | May 24, 2018 |
Intellectual disability, autosomal dominant 24 | 1 | Feb 6, 2017 |
Intellectual disability, autosomal dominant 30 | 1 | May 4, 2017 |
Intellectual disability, autosomal dominant 34 | 1 | Aug 16, 2021 |
Intellectual disability, autosomal dominant 39 | 1 | May 4, 2017 |
Intellectual disability, autosomal dominant 41 | 1 | Jul 11, 2023 |
Intellectual disability, autosomal dominant 48 | 1 | May 24, 2019 |
Intellectual disability, autosomal dominant 5 | 2 | Mar 3, 2016 |
Intellectual disability, autosomal dominant 50 | 3 | Nov 28, 2022 |
Intellectual disability, autosomal dominant 52 | 2 | Nov 28, 2022 |
Intellectual disability, autosomal dominant 56 | 1 | Jul 31, 2019 |
Intellectual disability, autosomal dominant 57 | 1 | Mar 6, 2020 |
Intellectual disability, autosomal dominant 6 | 2 | Jul 20, 2017 |
Intellectual disability, autosomal dominant 8 | 1 | Mar 6, 2020 |
Intellectual disability, autosomal dominant 9 | 2 | May 4, 2017 |
Intellectual disability, autosomal recessive 13 | 2 | Jul 30, 2018 |
Intellectual disability, moderate | 24 | Jul 7, 2023 |
Intellectual disability, severe | 2 | Jul 7, 2023 |
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 1 | May 4, 2017 |
Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 4 | May 18, 2022 |
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 3 | Jan 25, 2024 |
Irido-corneo-trabecular dysgenesis | 1 | May 18, 2022 |
Joint laxity | 1 | Jul 7, 2023 |
Joubert syndrome 23 | 2 | Sep 9, 2021 |
Joubert syndrome 3 | 2 | May 24, 2019 |
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 2 | Jul 11, 2023 |
KBG syndrome | 9 | Jul 7, 2023 |
KINSSHIP syndrome | 1 | Aug 1, 2024 |
Kabuki syndrome 1 | 7 | Nov 28, 2022 |
Kabuki syndrome 2 | 1 | Jul 31, 2019 |
Kleefstra syndrome 1 | 4 | May 18, 2022 |
Kleefstra syndrome 2 | 1 | Jul 30, 2018 |
Kniest dysplasia | 1 | Nov 9, 2021 |
Kufor-Rakeb syndrome | 1 | Nov 28, 2022 |
Lamb-Shaffer syndrome | 2 | Jun 10, 2021 |
Landau-Kleffner syndrome | 1 | May 4, 2017 |
Large for gestational age | 1 | Jul 12, 2023 |
Lateral meningocele syndrome | 1 | Jan 25, 2024 |
Lethal congenital contracture syndrome 11 | 1 | Jan 8, 2021 |
Lethal congenital contracture syndrome 7 | 2 | Nov 5, 2020 |
Leukemia, acute lymphoblastic, susceptibility to, 3 | 1 | Feb 28, 2018 |
Leukoencephalopathy with calcifications and cysts | 2 | Sep 15, 2023 |
Liang-Wang syndrome | 1 | May 18, 2022 |
Linear skin defects with multiple congenital anomalies 1 | 1 | Nov 9, 2021 |
Long QT syndrome 1 | 8 | Sep 2, 2021 |
Long QT syndrome 2 | 1 | Aug 2, 2019 |
Long QT syndrome 3 | 3 | Jan 16, 2024 |
Lymphatic malformation 6 | 2 | Nov 26, 2019 |
Lynch syndrome 1 | 2 | Aug 2, 2019 |
Lynch syndrome 4 | 6 | Nov 28, 2022 |
Lynch syndrome 5 | 4 | May 18, 2022 |
MHC class II deficiency | 1 | Mar 9, 2020 |
MIRAGE syndrome | 2 | Mar 9, 2022 |
Macrocephaly | 4 | Jul 11, 2023 |
Macrocephaly at birth | 1 | Jul 12, 2023 |
Macrocephaly-autism syndrome | 1 | Aug 3, 2017 |
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 5 | May 4, 2017 |
Macrotia | 1 | May 18, 2022 |
Malignant hyperthermia, susceptibility to, 1 | 6 | Sep 9, 2021 |
Malignant tumor of prostate | 1 | Sep 26, 2022 |
Mandibular prognathia | 1 | Jul 11, 2023 |
Mandibulofacial dysostosis-microcephaly syndrome | 1 | Mar 9, 2020 |
Marfan syndrome | 2 | May 24, 2019 |
Maturity-onset diabetes of the young type 8 | 1 | Nov 28, 2022 |
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | 1 | May 24, 2019 |
Melanoma, cutaneous malignant, susceptibility to, 8 | 1 | Sep 26, 2022 |
Melnick-Needles syndrome | 1 | Oct 21, 2020 |
Menke-Hennekam syndrome 1 | 2 | May 18, 2022 |
Menkes kinky-hair syndrome | 2 | May 18, 2022 |
Merosin deficient congenital muscular dystrophy | 3 | Feb 16, 2024 |
Methylmalonic acidemia with homocystinuria, type cblX | 3 | Mar 26, 2021 |
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 3 | Mar 9, 2020 |
Microcephaly | 2 | Jul 7, 2023 |
Microcephaly 5, primary, autosomal recessive | 2 | Dec 21, 2017 |
Micrognathia | 1 | May 18, 2022 |
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 3 | Jul 11, 2023 |
Midface retrusion | 2 | Jul 11, 2023 |
Migraine | 1 | Jul 7, 2023 |
Migraine, familial hemiplegic, 1 | 2 | Jan 25, 2024 |
Mild global developmental delay | 2 | Jul 7, 2023 |
Mitochondrial DNA depletion syndrome, myopathic form | 1 | Oct 21, 2020 |
Mitochondrial complex III deficiency nuclear type 2 | 2 | Oct 21, 2020 |
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | 1 | Nov 9, 2021 |
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | 1 | Mar 9, 2020 |
Motor delay | 2 | May 18, 2022 |
Motor stereotypies | 1 | Jul 7, 2023 |
Mowat-Wilson syndrome | 3 | May 24, 2018 |
Multicentric osteolysis nodulosis arthropathy spectrum | 1 | May 24, 2019 |
Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 1 | Oct 21, 2020 |
Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 1 | Mar 1, 2017 |
Multiple endocrine neoplasia type 2A | 2 | Sep 9, 2021 |
Multiple gastrointestinal atresias | 2 | Mar 9, 2020 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 1 | Sep 15, 2023 |
Muscular dystrophy-dystroglycanopathy type B5 | 1 | Sep 15, 2023 |
Myasthenic syndrome, congenital, 22 | 1 | Mar 2, 2021 |
Myoclonic-astatic epilepsy | 1 | Mar 3, 2016 |
Myofibromatosis, infantile, 2 | 1 | Jan 25, 2024 |
Myopia 6 | 1 | Sep 9, 2021 |
Narrow mouth | 1 | May 18, 2022 |
Nemaline myopathy 2 | 2 | May 24, 2019 |
Nemaline myopathy 8 | 3 | Jun 10, 2021 |
Neurodegeneration with brain iron accumulation 5 | 3 | Jul 7, 2023 |
Neurodegeneration with brain iron accumulation 6 | 2 | May 24, 2019 |
Neurodevelopmental delay | 1 | Sep 28, 2022 |
Neurodevelopmental disorder | 1 | Sep 9, 2021 |
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 1 | Nov 28, 2022 |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 1 | May 18, 2022 |
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 3 | Jun 10, 2021 |
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | 1 | Sep 9, 2021 |
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | 1 | Jul 7, 2023 |
Neurodevelopmental disorder with hypotonia and dysmorphic facies | 1 | Mar 15, 2024 |
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language | 1 | Aug 1, 2024 |
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures | 1 | Jul 7, 2023 |
Neurodevelopmental disorder with involuntary movements | 2 | Jan 25, 2024 |
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 1 | May 24, 2018 |
Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum | 2 | Jul 10, 2023 |
Neurofibromatosis, type 1 | 4 | May 18, 2022 |
Neurofibromatosis-Noonan syndrome | 1 | Jun 10, 2021 |
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 | 1 | Jul 7, 2023 |
Neuronal ceroid lipofuscinosis 1 | 2 | Sep 9, 2021 |
Neuronal ceroid lipofuscinosis 2 | 2 | Mar 3, 2016 |
Neuroocular syndrome | 1 | Jul 11, 2023 |
Neuropathy, hereditary sensory and autonomic, type 1A | 1 | Sep 9, 2021 |
Neutropenia | 1 | May 18, 2022 |
Nicolaides-Baraitser syndrome | 2 | May 4, 2017 |
Non-ketotic hyperglycinemia | 1 | Sep 9, 2021 |
Noonan syndrome 1 | 11 | Sep 9, 2021 |
Noonan syndrome 10 | 1 | Oct 21, 2020 |
Noonan syndrome 12 | 1 | Mar 2, 2021 |
Noonan syndrome 2 | 1 | Nov 28, 2022 |
Noonan syndrome 3 | 1 | Sep 9, 2021 |
Noonan syndrome 5 | 1 | Mar 9, 2020 |
Noonan syndrome 8 | 1 | May 4, 2017 |
Noonan syndrome-like disorder with loose anagen hair 1 | 2 | Nov 9, 2021 |
Obesity | 5 | Jul 11, 2023 |
Oculocerebrofacial syndrome, Kaufman type | 2 | Nov 26, 2019 |
Oculocutaneous albinism type 1B | 2 | Jan 25, 2024 |
Oculopharyngeal muscular dystrophy | 1 | May 24, 2019 |
Optic atrophy | 1 | May 18, 2022 |
Orofaciodigital syndrome type 14 | 2 | Mar 9, 2020 |
Osteochondritis dissecans | 3 | Jun 10, 2021 |
Osteocraniostenosis | 1 | Oct 21, 2020 |
Osteogenesis imperfecta type III | 1 | Mar 9, 2020 |
Osteogenesis imperfecta, perinatal lethal | 1 | Aug 16, 2021 |
Otospondylomegaepiphyseal dysplasia, autosomal dominant | 1 | Jul 11, 2023 |
PCWH syndrome | 1 | Sep 15, 2023 |
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 1 | Mar 6, 2020 |
PMM2-congenital disorder of glycosylation | 4 | Oct 8, 2024 |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 3 | Sep 9, 2021 |
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | 2 | Jul 7, 2023 |
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | 1 | May 24, 2018 |
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | 1 | Mar 9, 2020 |
Paraganglioma | 1 | May 18, 2022 |
Paragangliomas 4 | 1 | Aug 2, 2019 |
Paragangliomas 5 | 1 | Dec 21, 2017 |
Paramyotonia congenita of Von Eulenburg | 2 | Aug 16, 2021 |
Parietal foramina 2 | 1 | Aug 1, 2024 |
Patent ductus arteriosus | 1 | Jul 7, 2023 |
Pendred syndrome | 2 | May 24, 2019 |
Peripheral pulmonary artery stenosis | 2 | Jul 7, 2023 |
Periventricular heterotopia | 1 | Jul 7, 2023 |
Periventricular leukomalacia | 2 | Jul 7, 2023 |
Periventricular nodular heterotopia 8 | 1 | Aug 6, 2019 |
Peroxisome biogenesis disorder 7A (Zellweger) | 1 | Mar 9, 2020 |
Pes planus | 1 | Jul 11, 2023 |
Pfeiffer syndrome | 1 | Nov 9, 2021 |
Phelan-McDermid syndrome | 5 | Jul 7, 2023 |
Pheochromocytoma | 1 | May 18, 2022 |
Pierpont syndrome | 1 | Nov 12, 2018 |
Pitt-Hopkins syndrome | 6 | Mar 6, 2020 |
Pitt-Hopkins-like syndrome 2 | 2 | May 4, 2017 |
Platelet-type bleeding disorder 15 | 2 | Feb 28, 2018 |
Poirier-Bienvenu neurodevelopmental syndrome | 1 | May 18, 2022 |
Polycystic kidney disease 2 | 1 | Jul 6, 2017 |
Polycystic kidney disease 4 | 6 | Nov 9, 2021 |
Polydactyly, postaxial, type A1 | 1 | Jun 10, 2021 |
Polydactyly, postaxial, type A8 | 1 | Oct 21, 2020 |
Polyhydramnios | 1 | Jul 12, 2023 |
Pontocerebellar hypoplasia type 4 | 2 | May 18, 2022 |
Precocious puberty | 1 | Jul 11, 2023 |
Premature birth | 2 | Jul 7, 2023 |
Primary ciliary dyskinesia 3 | 4 | Oct 21, 2020 |
Primary degenerative dementia of the Alzheimer type, presenile onset | 10 | Oct 28, 2019 |
Prostate cancer, hereditary, 9 | 1 | Sep 26, 2022 |
Pseudohypoparathyroidism type I A | 1 | May 18, 2022 |
Psoriasiform dermatitis | 2 | Jul 7, 2023 |
Pyruvate dehydrogenase E1-alpha deficiency | 5 | Nov 9, 2021 |
Recessive dystrophic epidermolysis bullosa | 1 | Mar 9, 2020 |
Renal carnitine transport defect | 3 | Jul 6, 2017 |
Renal cysts and diabetes syndrome | 1 | Oct 21, 2020 |
Renal hypodysplasia/aplasia 3 | 3 | Jun 10, 2021 |
Retrognathia | 1 | Jul 7, 2023 |
Rett syndrome | 4 | Sep 9, 2021 |
Rett syndrome, congenital variant | 3 | May 4, 2017 |
Ritscher-Schinzel syndrome 4 | 1 | Aug 1, 2024 |
Rubinstein-Taybi syndrome due to CREBBP mutations | 4 | Mar 9, 2020 |
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2 | Mar 9, 2020 |
STING-associated vasculopathy with onset in infancy | 1 | Sep 9, 2021 |
Sacral dimple | 1 | Jul 7, 2023 |
Schaaf-Yang syndrome | 5 | May 18, 2022 |
Schinzel-Giedion syndrome | 1 | Jan 8, 2021 |
Schuurs-Hoeijmakers syndrome | 1 | May 4, 2017 |
Seborrhea-like dermatitis with psoriasiform elements | 1 | Nov 28, 2022 |
See cases | 105 | Jan 25, 2024 |
Seizure | 16 | Jul 11, 2023 |
Seizures, benign familial neonatal, 2 | 1 | Jul 6, 2017 |
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | 1 | Jun 10, 2021 |
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 2 | May 4, 2017 |
Severe myoclonic epilepsy in infancy | 8 | Feb 21, 2023 |
Shallow orbits | 1 | Jul 11, 2023 |
Short 5th metacarpal | 2 | Jul 7, 2023 |
Short stature | 1 | Jul 7, 2023 |
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | 1 | Mar 9, 2020 |
Short stature, microcephaly, and endocrine dysfunction | 2 | May 24, 2019 |
Short-rib thoracic dysplasia 13 with or without polydactyly | 2 | Mar 9, 2020 |
Sifrim-Hitz-Weiss syndrome | 2 | Jul 11, 2023 |
Single umbilical artery | 2 | Jul 7, 2023 |
Skraban-Deardorff syndrome | 4 | Sep 9, 2021 |
Sleep apnea | 2 | Jul 11, 2023 |
Smith-Lemli-Opitz syndrome | 4 | Oct 21, 2020 |
Spastic paraplegia, intellectual disability, nystagmus, and obesity | 1 | Mar 31, 2023 |
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | 2 | Feb 5, 2018 |
Spasticity | 2 | Jul 7, 2023 |
Speech apraxia | 1 | Jul 7, 2023 |
Speech delay | 1 | Sep 9, 2021 |
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant | 1 | Jun 10, 2021 |
Spinocerebellar ataxia 47 | 1 | Oct 21, 2020 |
Spinocerebellar ataxia type 15/16 | 2 | Feb 28, 2018 |
Spinocerebellar ataxia type 29 | 1 | Mar 9, 2020 |
Spinocerebellar ataxia type 6 | 1 | Jan 25, 2024 |
Spinocerebellar ataxia type 8 | 1 | Aug 1, 2024 |
Spondylo-ocular syndrome | 1 | Jul 7, 2023 |
Spondyloepimetaphyseal dysplasia, aggrecan type | 2 | Mar 6, 2020 |
Spondyloepiphyseal dysplasia, Stanescu type | 3 | Nov 26, 2019 |
Stereotypic movement disorder | 1 | Sep 2, 2022 |
Stickler syndrome type 1 | 4 | Aug 16, 2021 |
Strabismus | 2 | Jul 11, 2023 |
Structural heart defects and renal anomalies syndrome | 4 | Aug 17, 2021 |
Subglottic stenosis | 1 | Jul 7, 2023 |
Sudden cardiac failure, infantile | 2 | Nov 26, 2019 |
Symphalangism-brachydactyly syndrome | 1 | Dec 9, 2019 |
Syndromic X-linked intellectual disability 34 | 1 | May 18, 2022 |
Syndromic X-linked intellectual disability 94 | 2 | May 4, 2017 |
Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Jul 20, 2017 |
Syndromic X-linked intellectual disability Najm type | 1 | Mar 6, 2020 |
Syndromic X-linked intellectual disability Raymond type | 2 | Sep 2, 2022 |
Syndromic X-linked intellectual disability Shashi type | 1 | Jul 7, 2023 |
Syndromic X-linked intellectual disability Snyder type | 1 | May 18, 2022 |
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant | 1 | Aug 16, 2021 |
TELO2-related intellectual disability-neurodevelopmental disorder | 2 | Jul 6, 2017 |
Tall stature | 1 | May 18, 2022 |
Tatton-Brown-Rahman overgrowth syndrome | 2 | Nov 8, 2017 |
Tay-Sachs disease | 4 | Jul 6, 2017 |
Tetralogy of Fallot | 1 | Oct 21, 2020 |
Thanatophoric dysplasia, type 2 | 1 | Jun 17, 2020 |
Thin vermilion border | 1 | May 18, 2022 |
Thrombocythemia 3 | 1 | Nov 28, 2022 |
Thrombocytopenia | 2 | Jul 11, 2023 |
Townes-Brocks syndrome 1 | 2 | Mar 26, 2021 |
Tracheomalacia | 2 | Jul 7, 2023 |
Tremor | 2 | Jul 11, 2023 |
Trichohepatoenteric syndrome 1 | 2 | Jul 31, 2019 |
Trigonocephaly | 1 | Jul 11, 2023 |
Tuberous sclerosis 1 | 1 | Mar 2, 2021 |
Tuberous sclerosis 2 | 1 | May 18, 2022 |
Tyrosinase-negative oculocutaneous albinism | 2 | Jan 25, 2024 |
Tyrosinase-positive oculocutaneous albinism | 2 | Jul 6, 2017 |
Ullrich congenital muscular dystrophy 2 | 2 | Jun 17, 2020 |
Unverricht-Lundborg syndrome | 1 | May 4, 2017 |
Upslanted palpebral fissure | 1 | May 18, 2022 |
Van Maldergem syndrome 1 | 2 | Dec 21, 2017 |
Van der Woude syndrome 2 | 1 | Sep 9, 2021 |
Ventricular septal defect | 3 | Jul 12, 2023 |
Ventriculomegaly | 1 | Jul 7, 2023 |
Vertebral fusion | 2 | Jul 7, 2023 |
Vertebral, cardiac, renal, and limb defects syndrome 3 | 1 | Mar 2, 2021 |
Very long chain acyl-CoA dehydrogenase deficiency | 1 | Jun 10, 2021 |
Waardenburg syndrome type 2E | 1 | Sep 15, 2023 |
Waardenburg syndrome type 4A | 1 | Nov 28, 2022 |
Waardenburg syndrome type 4C | 1 | Sep 15, 2023 |
Wieacker-Wolff syndrome | 1 | Mar 9, 2020 |
Wiedemann-Steiner syndrome | 2 | Mar 6, 2020 |
Wilson disease | 2 | Jul 6, 2017 |
Wolff-Parkinson-White pattern | 1 | Mar 17, 2023 |
X-linked Opitz G/BBB syndrome | 1 | Mar 9, 2020 |
X-linked hydrocephalus syndrome | 1 | Dec 9, 2019 |
X-linked intellectual disability Cabezas type | 1 | Nov 8, 2017 |
X-linked intellectual disability, Cantagrel type | 1 | Jun 27, 2016 |
X-linked intellectual disability, van Esch type | 1 | Sep 9, 2021 |
X-linked intellectual disability-cerebellar hypoplasia syndrome | 1 | May 4, 2017 |
X-linked intellectual disability-psychosis-macroorchidism syndrome | 1 | Nov 5, 2020 |
X-linked intellectual disability-short stature-overweight syndrome | 1 | Jan 25, 2024 |
beta Thalassemia | 2 | Jul 6, 2017 |
disorder of neutrophil chemotaxis | 1 | May 18, 2022 |
not provided | 81 | Apr 7, 2023 |
not specified | 52 | Apr 27, 2023 |