3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 1 | Sep 17, 2019 |
4p partial monosomy syndrome | 1 | Mar 31, 2021 |
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 1 | Sep 17, 2019 |
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 1 | Sep 17, 2019 |
ALG1-congenital disorder of glycosylation | 1 | Mar 31, 2021 |
Aarskog syndrome | 1 | Mar 31, 2021 |
Abnormal facial shape | 1 | Sep 22, 2022 |
Achondrogenesis, type IB | 1 | Sep 17, 2019 |
Acrofacial dysostosis Cincinnati type | 1 | Mar 31, 2021 |
Acromesomelic dysplasia 2C, Hunter-Thompson type | 1 | Sep 17, 2019 |
Acyl-CoA dehydrogenase 9 deficiency | 2 | Sep 17, 2019 |
Agammaglobulinemia 10, autosomal dominant | 1 | Apr 17, 2024 |
Alagille syndrome due to a JAG1 point mutation | 1 | Apr 17, 2024 |
Allan-Herndon-Dudley syndrome | 1 | Mar 31, 2021 |
Alveolar capillary dysplasia with pulmonary venous misalignment | 1 | Sep 17, 2019 |
Ambiguous genitalia | 1 | Sep 17, 2019 |
Amyotrophic lateral sclerosis type 2, juvenile | 1 | Mar 31, 2021 |
Androgen resistance syndrome | 1 | Mar 31, 2021 |
Anophthalmia/microphthalmia-esophageal atresia syndrome | 1 | Mar 31, 2021 |
Aortic valve disease 1 | 2 | Apr 17, 2024 |
Aortic valve disease 2 | 1 | Mar 31, 2021 |
Arrhythmogenic right ventricular dysplasia, familial, 14 | 1 | Apr 17, 2024 |
Arthrogryposis multiplex congenita 3, myogenic type | 2 | Sep 22, 2022 |
Aspartylglucosaminuria | 1 | Mar 31, 2021 |
Asphyxiating thoracic dystrophy 3 | 4 | Sep 22, 2022 |
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 2 | Mar 31, 2021 |
Atrial septal defect | 1 | Sep 17, 2019 |
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 1 | Mar 31, 2021 |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 2 | Sep 17, 2019 |
Autosomal dominant pseudohypoaldosteronism type 1 | 1 | Mar 31, 2021 |
Autosomal recessive nonsyndromic hearing loss 21 | 1 | Sep 17, 2019 |
Autosomal recessive nonsyndromic hearing loss 28 | 1 | Apr 17, 2024 |
Autosomal recessive polycystic kidney disease | 1 | Sep 17, 2019 |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | 1 | Sep 22, 2022 |
Baraitser-Winter syndrome 1 | 1 | Mar 31, 2021 |
Baraitser-winter syndrome 2 | 1 | Mar 31, 2021 |
Bardet-Biedl syndrome 22 | 1 | Mar 8, 2021 |
Basilicata-Akhtar syndrome | 1 | Mar 31, 2021 |
Bilateral cleft lip | 1 | Sep 17, 2019 |
Biotin-responsive basal ganglia disease | 1 | Mar 31, 2021 |
Branchiooculofacial syndrome | 1 | Mar 31, 2021 |
Breast-ovarian cancer, familial, susceptibility to, 1 | 1 | Apr 17, 2024 |
Breast-ovarian cancer, familial, susceptibility to, 5 | 1 | Apr 17, 2024 |
C syndrome | 1 | Sep 17, 2019 |
CHARGE syndrome | 5 | Sep 22, 2022 |
Capillary hemangioma | 1 | Sep 17, 2019 |
Capillary malformation-arteriovenous malformation 1 | 1 | Apr 17, 2024 |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 1 | Mar 31, 2021 |
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | 1 | Apr 17, 2024 |
Cardiac, facial, and digital anomalies with developmental delay | 2 | Sep 22, 2022 |
Cardiofaciocutaneous syndrome 1 | 1 | Sep 17, 2019 |
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | 1 | Apr 17, 2024 |
Cerebral cavernous malformation | 1 | Sep 17, 2019 |
Cerebral cavernous malformation 3 | 1 | Mar 31, 2021 |
Cerebral palsy | 1 | Sep 17, 2019 |
Cerebrooculofacioskeletal syndrome 3 | 1 | Mar 31, 2021 |
Childhood apraxia of speech | 1 | Mar 31, 2021 |
Chromosome 2q32-q33 deletion syndrome | 2 | Mar 31, 2021 |
Ciliary dyskinesia, primary, 40 | 1 | Mar 31, 2021 |
Citrullinemia type I | 1 | Apr 17, 2024 |
Cobalamin C disease | 2 | Sep 17, 2019 |
Coffin-Lowry syndrome | 1 | Mar 31, 2021 |
Complex cortical dysplasia with other brain malformations 5 | 1 | Mar 31, 2021 |
Complex cortical dysplasia with other brain malformations 7 | 1 | Mar 31, 2021 |
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 1 | Mar 31, 2021 |
Congenital contractures of the limbs and face, hypotonia, and developmental delay | 1 | Sep 17, 2019 |
Congenital diaphragmatic hernia | 2 | Sep 17, 2019 |
Congenital diarrhea 6 | 1 | Apr 17, 2024 |
Congenital diarrhea 7 with exudative enteropathy | 1 | Sep 17, 2019 |
Congenital heart defects, multiple types, 3 | 1 | Sep 17, 2019 |
Congenital myasthenic syndrome 18 | 2 | Mar 31, 2021 |
Congenital omphalocele | 1 | Sep 17, 2019 |
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | 1 | Mar 31, 2021 |
Cornelia de Lange syndrome 3 | 1 | Sep 17, 2019 |
Cornelia de Lange syndrome 4 | 2 | Mar 31, 2021 |
Cornelia de Lange syndrome 5 | 1 | Sep 22, 2022 |
Coronary artery disease, autosomal dominant 2 | 1 | Sep 17, 2019 |
Corpus callosum, agenesis of | 1 | Sep 17, 2019 |
Costello syndrome | 1 | Sep 17, 2019 |
Cowden syndrome 5 | 1 | Apr 17, 2024 |
Cyanosis, transient neonatal | 1 | Apr 17, 2024 |
DYRK1A-related intellectual disability syndrome | 2 | Sep 22, 2022 |
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 1 | Sep 22, 2022 |
Delayed speech and language development | 1 | May 13, 2020 |
Developmental and epileptic encephalopathy, 11 | 1 | Sep 17, 2019 |
Developmental and epileptic encephalopathy, 46 | 1 | Mar 31, 2021 |
Developmental and epileptic encephalopathy, 5 | 1 | Mar 31, 2021 |
Developmental delay with variable intellectual impairment and behavioral abnormalities | 1 | Sep 17, 2019 |
Diabetes insipidus, nephrogenic, autosomal | 1 | Mar 31, 2021 |
Diabetes mellitus | 1 | Sep 17, 2019 |
Diaphragmatic hernia 3 | 1 | Sep 22, 2022 |
Diencephalic-mesencephalic junction dysplasia syndrome 1 | 1 | Sep 17, 2019 |
Diets-Jongmans syndrome | 1 | Mar 31, 2021 |
Dilated cardiomyopathy 1G | 4 | Apr 17, 2024 |
Dilated cardiomyopathy 1Y | 2 | Apr 17, 2024 |
Dilated cardiomyopathy 3B | 1 | Apr 17, 2024 |
Distal arthrogryposis type 5D | 1 | Mar 31, 2021 |
Distal myopathy with posterior leg and anterior hand involvement | 1 | Mar 31, 2021 |
Ehlers-danlos syndrome, arthrochalasia type, 2 | 1 | Mar 31, 2021 |
Epilepsy, early-onset, vitamin B6-dependent | 1 | Sep 17, 2019 |
Episodic ataxia type 2 | 1 | Mar 31, 2021 |
FG syndrome 2 | 1 | Sep 17, 2019 |
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | 1 | Mar 31, 2021 |
Familial cancer of breast | 1 | Apr 17, 2024 |
Familial dysautonomia | 1 | Sep 17, 2019 |
Familial hemophagocytic lymphohistiocytosis 2 | 1 | Apr 17, 2024 |
Female infertility due to zona pellucida defect | 1 | Apr 17, 2024 |
Fetal akinesia deformation sequence 3 | 1 | Apr 17, 2024 |
Floating-Harbor syndrome | 1 | Sep 22, 2022 |
Focal-onset seizure | 1 | Sep 17, 2019 |
Fraser syndrome 2 | 4 | Sep 22, 2022 |
Friedreich ataxia 1 | 1 | Apr 17, 2024 |
Generalized epilepsy with febrile seizures plus, type 1 | 1 | Sep 17, 2019 |
Generalized myoclonic-atonic seizure | 1 | Sep 17, 2019 |
Genitopatellar syndrome | 2 | Sep 22, 2022 |
Geroderma osteodysplastica | 1 | Sep 17, 2019 |
Glaucoma 3A | 2 | Mar 31, 2021 |
Global developmental delay | 9 | Sep 22, 2022 |
Hearing impairment | 1 | Sep 17, 2019 |
Heart, malformation of | 1 | Sep 17, 2019 |
Hemochromatosis type 1 | 3 | Apr 17, 2024 |
Hepatosplenomegaly | 1 | Sep 22, 2022 |
Hereditary spastic paraplegia 30 | 1 | Apr 17, 2024 |
Heterotaxy, visceral, 1, X-linked | 1 | Sep 17, 2019 |
Heterotaxy, visceral, 4, autosomal | 1 | Apr 17, 2024 |
Heterotaxy, visceral, 5, autosomal | 1 | Mar 31, 2021 |
Hirschsprung disease, susceptibility to, 1 | 1 | Mar 31, 2021 |
Hirsutism | 1 | Sep 17, 2019 |
Hogue-Janssens syndrome 1 | 1 | Mar 31, 2021 |
Holt-Oram syndrome | 1 | Mar 31, 2021 |
Hurler syndrome | 1 | Mar 31, 2021 |
Hyper-IgM syndrome type 2 | 1 | Apr 17, 2024 |
Hypercholesterolemia, autosomal dominant, type B | 1 | Apr 17, 2024 |
Hyperinsulinemic hypoglycemia, familial, 2 | 1 | Mar 31, 2021 |
Hypertrophic cardiomyopathy 14 | 1 | Apr 17, 2024 |
Hypertrophic cardiomyopathy 2 | 2 | Apr 17, 2024 |
Hypertrophic cardiomyopathy 9 | 2 | Mar 31, 2021 |
Hypogonadotropic hypogonadism 3 with or without anosmia | 1 | Sep 17, 2019 |
Hypoplasia of the corpus callosum | 1 | Sep 17, 2019 |
Hypotonia with lactic acidemia and hyperammonemia | 1 | Mar 31, 2021 |
Imagawa-Matsumoto syndrome | 1 | Mar 31, 2021 |
Immunodeficiency | 2 | Sep 17, 2019 |
Infantile cerebellar-retinal degeneration | 1 | Sep 17, 2019 |
Infantile convulsions and choreoathetosis | 1 | Sep 17, 2019 |
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | 2 | Mar 31, 2021 |
Intellectual developmental disorder with dysmorphic facies and ptosis | 1 | Mar 31, 2021 |
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 1 | Sep 22, 2022 |
Intellectual disability | 3 | Sep 17, 2019 |
Intellectual disability, X-linked 1 | 2 | Sep 17, 2019 |
Intellectual disability, X-linked 102 | 2 | Mar 31, 2021 |
Intellectual disability, X-linked 99 | 1 | Sep 17, 2019 |
Intellectual disability, X-linked 99, syndromic, female-restricted | 1 | Mar 31, 2021 |
Intellectual disability, X-linked, syndromic, Bain type | 1 | Mar 31, 2021 |
Intellectual disability, autosomal dominant 1 | 1 | Mar 31, 2021 |
Intellectual disability, autosomal dominant 14 | 1 | Sep 17, 2019 |
Intellectual disability, autosomal dominant 22 | 1 | Sep 22, 2022 |
Intellectual disability, autosomal dominant 29 | 1 | Sep 17, 2019 |
Intellectual disability, autosomal dominant 40 | 1 | Mar 31, 2021 |
Intellectual disability, autosomal dominant 5 | 1 | Mar 31, 2021 |
Intellectual disability, autosomal dominant 52 | 1 | Mar 31, 2021 |
Intellectual disability, autosomal dominant 58 | 1 | Sep 22, 2022 |
Intellectual disability, autosomal dominant 9 | 1 | Mar 31, 2021 |
Intellectual disability, autosomal recessive 44 | 2 | Mar 31, 2021 |
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | 2 | Mar 31, 2021 |
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 2 | Sep 17, 2019 |
Joubert syndrome 10 | 1 | Jan 5, 2022 |
Joubert syndrome 14 | 3 | Sep 22, 2022 |
Joubert syndrome 5 | 1 | Apr 17, 2024 |
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 1 | Apr 17, 2024 |
KBG syndrome | 4 | Mar 31, 2021 |
Kabuki syndrome 1 | 7 | Apr 17, 2024 |
Kleefstra syndrome 1 | 1 | Sep 17, 2019 |
Koolen-de Vries syndrome | 3 | Apr 17, 2024 |
Landau-Kleffner syndrome | 1 | Mar 31, 2021 |
Lissencephaly due to TUBA1A mutation | 3 | Apr 17, 2024 |
Lymphatic malformation 6 | 1 | Sep 22, 2022 |
Lymphatic malformation 9 | 1 | Apr 17, 2024 |
MEHMO syndrome | 1 | Mar 31, 2021 |
Macrocephaly, acquired, with impaired intellectual development | 1 | Mar 31, 2021 |
Mandibulofacial dysostosis-microcephaly syndrome | 1 | Mar 31, 2021 |
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | 1 | Mar 31, 2021 |
Microcephalic primordial dwarfism due to ZNF335 deficiency | 2 | Sep 17, 2019 |
Microcephaly 1, primary, autosomal recessive | 1 | Mar 31, 2021 |
Microcephaly 18, primary, autosomal dominant | 1 | Mar 31, 2021 |
Micrognathia | 1 | Sep 17, 2019 |
Micromelia | 2 | Sep 22, 2022 |
Migraine, familial hemiplegic, 2 | 1 | Apr 17, 2024 |
Mitochondrial complex III deficiency nuclear type 1 | 2 | Mar 31, 2021 |
Motor delay | 1 | Sep 17, 2019 |
Mowat-Wilson syndrome | 2 | Sep 22, 2022 |
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome | 3 | Mar 31, 2021 |
Muscular dystrophy, limb-girdle, autosomal recessive 23 | 1 | Mar 31, 2021 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 3 | Sep 22, 2022 |
Nager syndrome | 1 | Mar 31, 2021 |
Neurodegeneration with brain iron accumulation 5 | 1 | Mar 31, 2021 |
Neurodevelopmental delay | 4 | Mar 31, 2021 |
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 1 | Mar 31, 2021 |
Neuronal ceroid lipofuscinosis 2 | 2 | Mar 31, 2021 |
Non-immune hydrops fetalis | 27 | Sep 22, 2022 |
Noonan syndrome 1 | 7 | Apr 17, 2024 |
Noonan syndrome 2 | 1 | Apr 17, 2024 |
Noonan syndrome 3 | 1 | Apr 17, 2024 |
Noonan syndrome 4 | 3 | Apr 17, 2024 |
Noonan syndrome 6 | 1 | Apr 17, 2024 |
Noonan syndrome 8 | 1 | Apr 17, 2024 |
Noonan syndrome-like disorder with loose anagen hair 1 | 1 | Sep 22, 2022 |
Osteogenesis imperfecta, perinatal lethal | 2 | Sep 22, 2022 |
Oto-palato-digital syndrome, type II | 2 | Sep 22, 2022 |
PCWH syndrome | 1 | Sep 17, 2019 |
PMM2-congenital disorder of glycosylation | 1 | Mar 31, 2021 |
Paramyotonia congenita of Von Eulenburg | 1 | Apr 17, 2024 |
Peroxisome biogenesis disorder 1A (Zellweger) | 1 | Mar 31, 2021 |
Peters plus syndrome | 1 | Sep 17, 2019 |
Pfeiffer syndrome | 1 | Apr 17, 2024 |
Pili torti-developmental delay-neurological abnormalities syndrome | 1 | Mar 31, 2021 |
Poirier-Bienvenu neurodevelopmental syndrome | 1 | Mar 31, 2021 |
Polycystic kidney disease, adult type | 1 | Apr 17, 2024 |
Polydactyly | 2 | Sep 17, 2019 |
Pontocerebellar hypoplasia type 9 | 2 | Mar 31, 2021 |
Pontocerebellar hypoplasia, type 11 | 1 | Mar 31, 2021 |
Postaxial polydactyly | 1 | May 13, 2020 |
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 1 | Sep 17, 2019 |
Pseudohypoparathyroidism | 1 | Sep 17, 2019 |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 1 | Apr 17, 2024 |
Pyruvate dehydrogenase E1-alpha deficiency | 3 | Apr 17, 2024 |
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | 1 | Oct 3, 2018 |
Rett syndrome | 3 | Sep 17, 2019 |
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 3 | Mar 31, 2021 |
SIN3A-related intellectual disability syndrome due to a point mutation | 1 | Mar 31, 2021 |
Saethre-Chotzen syndrome | 1 | Mar 31, 2021 |
Salla disease | 2 | Mar 31, 2021 |
Schaaf-Yang syndrome | 2 | Mar 31, 2021 |
Schwartz-Jampel syndrome | 2 | Mar 31, 2021 |
Seizure | 2 | Sep 17, 2019 |
Seizures-scoliosis-macrocephaly syndrome | 1 | Sep 17, 2019 |
Severe combined immunodeficiency due to DCLRE1C deficiency | 1 | Apr 17, 2024 |
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | 1 | Sep 17, 2019 |
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | 1 | Sep 22, 2022 |
Skeletal dysplasia and progressive central nervous system degeneration, lethal | 1 | Mar 31, 2021 |
Snijders Blok-Campeau syndrome | 2 | Mar 31, 2021 |
Speech apraxia | 1 | Sep 17, 2019 |
Spondyloperipheral dysplasia | 1 | Mar 31, 2021 |
Stereotypic movement disorder | 1 | Sep 22, 2022 |
Stickler syndrome type 1 | 1 | Sep 22, 2022 |
Supranuclear palsy, progressive, 1 | 1 | Apr 17, 2024 |
Supravalvar aortic stenosis | 1 | Mar 31, 2021 |
Surfactant metabolism dysfunction, pulmonary, 2 | 1 | Apr 17, 2024 |
Syndromic X-linked intellectual disability Siderius type | 1 | Mar 31, 2021 |
TELO2-related intellectual disability-neurodevelopmental disorder | 1 | Mar 31, 2021 |
Tetralogy of Fallot | 1 | Apr 17, 2024 |
Thanatophoric dysplasia type 1 | 2 | Sep 22, 2022 |
Tooth agenesis, selective, 7 | 1 | Sep 17, 2019 |
Trichohepatoenteric syndrome 1 | 1 | Sep 17, 2019 |
Trichothiodystrophy 3, photosensitive | 1 | Mar 31, 2021 |
Trichothiodystrophy 5, nonphotosensitive | 1 | Sep 17, 2019 |
Tricuspid atresia | 2 | Sep 17, 2019 |
Ullrich congenital muscular dystrophy 1A | 2 | Mar 31, 2021 |
VACTERL with hydrocephalus | 1 | Sep 17, 2019 |
Ventricular septal defect | 2 | Sep 17, 2019 |
Vertebral, cardiac, renal, and limb defects syndrome 1 | 1 | Mar 31, 2021 |
Visceral myopathy 1 | 1 | Mar 31, 2021 |
Wieacker-Wolff syndrome | 2 | Mar 31, 2021 |
Wiedemann-Steiner syndrome | 6 | Mar 31, 2021 |
X-linked Alport syndrome | 1 | Oct 12, 2022 |
X-linked chondrodysplasia punctata 1 | 1 | Sep 17, 2019 |
X-linked lissencephaly with abnormal genitalia | 1 | Mar 31, 2021 |
X-linked sideroblastic anemia 1 | 1 | Apr 17, 2024 |