| 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 |
| 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 |
| 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 |
| MELAS syndrome | 1 | Apr 17, 2024 |
| 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 |
| Myoclonic-astatic epilepsy | 1 | Sep 17, 2019 |
| 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 |
