| 46,XY sex reversal 3 | 1 | Oct 6, 2022 |
| 8q24.3 microdeletion syndrome | 1 | Oct 6, 2022 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 1 | Nov 4, 2021 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 1 | Mar 14, 2024 |
| Actin accumulation myopathy | 1 | Oct 6, 2022 |
| Acute myeloid leukemia | 1 | Nov 4, 2021 |
| Adrenoleukodystrophy | 1 | Oct 6, 2022 |
| Age related macular degeneration 1 | 1 | Mar 14, 2024 |
| Age related macular degeneration 2 | 2 | Dec 3, 2021 |
| Alagille syndrome due to a JAG1 point mutation | 2 | Nov 4, 2021 |
| Aldosterone-producing adenoma with seizures and neurological abnormalities | 1 | Oct 6, 2022 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 1 | Nov 4, 2021 |
| Alstrom syndrome | 2 | Jul 5, 2021 |
| Alzheimer disease 9 | 1 | Oct 6, 2022 |
| Aniridia 1 | 1 | Oct 6, 2022 |
| Arrhythmogenic right ventricular dysplasia 11 | 1 | Nov 4, 2021 |
| Arrhythmogenic right ventricular dysplasia 12 | 1 | Mar 14, 2024 |
| Arrhythmogenic right ventricular dysplasia 13 | 1 | Oct 6, 2022 |
| Arthrogryposis multiplex congenita 3, myogenic type | 1 | Mar 14, 2024 |
| Ataxia, intention tremor, and hypotonia syndrome, childhood-onset | 1 | Mar 14, 2024 |
| Atrial fibrillation, familial, 13 | 1 | Nov 4, 2021 |
| Atrial septal defect 3 | 1 | Nov 4, 2021 |
| Auditory neuropathy, autosomal dominant 3 | 1 | Nov 21, 2023 |
| Aural atresia, congenital | 1 | Oct 6, 2022 |
| Auriculocondylar syndrome 2 | 1 | Nov 4, 2021 |
| Autism, susceptibility to, 17 | 1 | Jun 17, 2021 |
| Autism, susceptibility to, 20 | 1 | Mar 14, 2024 |
| Autism, susceptibility to, 5 | 3 | Mar 14, 2024 |
| Autism, susceptibility to, X-linked 1 | 1 | Dec 1, 2022 |
| Autosomal dominant centronuclear myopathy | 1 | Nov 21, 2023 |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 1 | Nov 4, 2021 |
| Autosomal dominant hypocalcemia 1 | 1 | Nov 4, 2021 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | Oct 6, 2022 |
| Autosomal dominant nonsyndromic hearing loss 12 | 1 | Oct 6, 2022 |
| Autosomal dominant nonsyndromic hearing loss 15 | 1 | Oct 6, 2022 |
| Autosomal dominant nonsyndromic hearing loss 3A | 1 | Nov 4, 2021 |
| Autosomal dominant optic atrophy classic form | 2 | Oct 6, 2022 |
| Autosomal recessive ataxia, Beauce type | 2 | Mar 14, 2024 |
| Autosomal recessive early-onset Parkinson disease 7 | 1 | Nov 4, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 1 | Nov 4, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 1 | Nov 4, 2021 |
| Autosomal recessive nonsyndromic hearing loss 84B | 1 | Mar 14, 2024 |
| Autosomal recessive osteopetrosis 8 | 1 | Mar 14, 2024 |
| Autosomal recessive spinocerebellar ataxia 10 | 1 | Jun 17, 2021 |
| Baraitser-Winter syndrome 1 | 1 | Jun 17, 2021 |
| Bardet-Biedl syndrome 19 | 1 | Nov 4, 2021 |
| Beck-Fahrner syndrome | 2 | Oct 6, 2022 |
| Bethlem myopathy 1A | 1 | Mar 14, 2024 |
| Bethlem myopathy 2 | 2 | Mar 14, 2024 |
| Bilateral microtia-deafness-cleft palate syndrome | 1 | Nov 4, 2021 |
| Bloom syndrome | 1 | Oct 6, 2022 |
| Bohring-Opitz syndrome | 1 | Jun 17, 2021 |
| Bone osteosarcoma | 1 | Nov 4, 2021 |
| Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia | 2 | Jan 4, 2023 |
| Brugada syndrome 1 | 1 | Oct 6, 2022 |
| CBL-related disorder | 1 | Jun 17, 2021 |
| CHARGE association | 1 | Oct 6, 2022 |
| CLAPO syndrome | 1 | Oct 6, 2022 |
| CLOVES syndrome | 1 | Oct 6, 2022 |
| Capillary infantile hemangioma | 1 | Oct 6, 2022 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 2 | Mar 14, 2024 |
| Cardiac valvular dysplasia, X-linked | 1 | Nov 21, 2023 |
| Cardiac-urogenital syndrome | 1 | Oct 6, 2022 |
| Cardiofaciocutaneous syndrome 3 | 1 | Dec 3, 2021 |
| Cardiofaciocutaneous syndrome 4 | 1 | Jun 17, 2021 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 2 | Oct 6, 2022 |
| Central core myopathy | 1 | Oct 6, 2022 |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 1 | Oct 6, 2022 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 1 | Oct 6, 2022 |
| Char syndrome | 1 | Dec 3, 2021 |
| Charcot-Marie-Tooth disease X-linked recessive 5 | 1 | Oct 6, 2022 |
| Charcot-Marie-Tooth disease axonal type 2K | 4 | Oct 6, 2022 |
| Charcot-Marie-Tooth disease axonal type 2N | 1 | Oct 6, 2022 |
| Charcot-Marie-Tooth disease axonal type 2O | 1 | Oct 6, 2022 |
| Charcot-Marie-Tooth disease axonal type 2T | 2 | Oct 6, 2022 |
| Charcot-Marie-Tooth disease type 2A2 | 1 | Oct 6, 2022 |
| Charcot-Marie-Tooth disease type 2E | 1 | Nov 4, 2021 |
| Charcot-Marie-Tooth disease, axonal, type 2FF | 1 | Oct 6, 2022 |
| Charcot-marie-tooth disease, axonal, type 2DD | 1 | Jun 17, 2021 |
| Childhood apraxia of speech | 2 | Oct 6, 2022 |
| Chopra-Amiel-Gordon syndrome | 2 | Oct 6, 2022 |
| Choroidal dystrophy, central areolar 2 | 1 | Dec 3, 2021 |
| Choroideremia | 1 | Nov 21, 2023 |
| Chromosome 2q32-q33 deletion syndrome | 1 | Oct 6, 2022 |
| Chromosome Xq28 duplication syndrome | 1 | Mar 14, 2024 |
| Clark-Baraitser syndrome | 1 | Oct 6, 2022 |
| Classic homocystinuria | 2 | Dec 3, 2021 |
| Cleft palate with or without ankyloglossia, X-linked | 1 | Nov 4, 2021 |
| Coffin-Lowry syndrome | 2 | Jun 17, 2021 |
| Coffin-Siris syndrome 1 | 2 | Mar 14, 2024 |
| Coffin-Siris syndrome 6 | 1 | Oct 6, 2022 |
| Coffin-Siris syndrome 8 | 1 | Oct 6, 2022 |
| Cognitive impairment with or without cerebellar ataxia | 3 | Mar 14, 2024 |
| Combined PSAP deficiency | 1 | Jun 17, 2021 |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | 1 | Oct 6, 2022 |
| Complex cortical dysplasia with other brain malformations 1 | 2 | Oct 6, 2022 |
| Complex cortical dysplasia with other brain malformations 5 | 1 | Nov 4, 2021 |
| Cone dystrophy 3 | 1 | Oct 6, 2022 |
| Congenital contractural arachnodactyly | 1 | Mar 14, 2024 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 1 | Nov 4, 2021 |
| Congenital myasthenic syndrome 1A | 1 | Nov 21, 2023 |
| Congenital myotonia, autosomal dominant form | 1 | Mar 14, 2024 |
| Congenital myotonia, autosomal recessive form | 1 | Mar 14, 2024 |
| Congenital nongoitrous hypothryoidism 6 | 1 | Nov 4, 2021 |
| Congenital primary aphakia | 1 | Oct 6, 2022 |
| Congenital stationary night blindness 1C | 1 | Oct 6, 2022 |
| Corneal dystrophy, Fuchs endothelial, 6 | 1 | Mar 14, 2024 |
| Cornelia de Lange syndrome 1 | 3 | Mar 14, 2024 |
| Cornelia de Lange syndrome 3 | 1 | Nov 4, 2021 |
| Cowden syndrome 1 | 1 | Jun 17, 2021 |
| Cowden syndrome 7 | 1 | Nov 4, 2021 |
| Crigler-Najjar syndrome type 1 | 1 | Mar 14, 2024 |
| Crigler-Najjar syndrome, type II | 1 | Mar 14, 2024 |
| DYRK1A-related intellectual disability syndrome | 1 | Nov 21, 2023 |
| Danon disease | 2 | Mar 14, 2024 |
| DeSanto-Shinawi syndrome due to WAC point mutation | 1 | Oct 6, 2022 |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 1 | Mar 14, 2024 |
| Deficiency of iodide peroxidase | 1 | Oct 6, 2022 |
| Developmental and epileptic encephalopathy 6B | 1 | Oct 6, 2022 |
| Developmental and epileptic encephalopathy, 11 | 3 | Mar 14, 2024 |
| Developmental and epileptic encephalopathy, 13 | 1 | Mar 14, 2024 |
| Developmental and epileptic encephalopathy, 26 | 2 | Jun 17, 2021 |
| Developmental and epileptic encephalopathy, 42 | 4 | Mar 14, 2024 |
| Developmental and epileptic encephalopathy, 57 | 1 | Oct 6, 2022 |
| Developmental and epileptic encephalopathy, 62 | 2 | Oct 6, 2022 |
| Developmental and epileptic encephalopathy, 7 | 3 | Oct 6, 2022 |
| Developmental and epileptic encephalopathy, 79 | 1 | Mar 14, 2024 |
| Developmental delay with or without dysmorphic facies and autism | 3 | Oct 6, 2022 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 1 | Dec 3, 2021 |
| Developmental delay, impaired speech, and behavioral abnormalities | 2 | Mar 14, 2024 |
| Developmental disorder | 3 | Mar 14, 2024 |
| Diaphyseal medullary stenosis-bone malignancy syndrome | 1 | Nov 4, 2021 |
| Diets-Jongmans syndrome | 1 | Mar 14, 2024 |
| Dilated cardiomyopathy 1DD | 1 | Mar 14, 2024 |
| Dilated cardiomyopathy 1G | 3 | Mar 14, 2024 |
| Dilated cardiomyopathy 1S | 3 | Oct 6, 2022 |
| Distal myopathy with posterior leg and anterior hand involvement | 1 | Mar 14, 2024 |
| Dystonia 12 | 1 | Jun 17, 2021 |
| Dystonia 28, childhood-onset | 2 | Mar 14, 2024 |
| Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | 1 | Oct 6, 2022 |
| Ehlers-Danlos syndrome, classic type, 2 | 1 | Mar 14, 2024 |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 1 | Mar 14, 2024 |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 2 | Oct 6, 2022 |
| Epilepsy, familial focal, with variable foci 1 | 1 | Mar 14, 2024 |
| Epilepsy, idiopathic generalized, susceptibility to, 11 | 1 | Nov 4, 2021 |
| Epilepsy, idiopathic generalized, susceptibility to, 14 | 1 | Nov 21, 2023 |
| Episodic ataxia type 2 | 1 | Mar 14, 2024 |
| Episodic kinesigenic dyskinesia 1 | 1 | Oct 6, 2022 |
| Familial Mediterranean fever, autosomal dominant | 1 | Nov 4, 2021 |
| Familial acute necrotizing encephalopathy | 1 | Mar 14, 2024 |
| Familial adenomatous polyposis 1 | 1 | Nov 4, 2021 |
| Familial amyloid neuropathy | 1 | Jun 17, 2021 |
| Familial cancer of breast | 4 | Nov 21, 2023 |
| Familial cold autoinflammatory syndrome 2 | 1 | Nov 4, 2021 |
| Gabriele de Vries syndrome | 1 | Oct 6, 2022 |
| Generalized epilepsy with febrile seizures plus, type 10 | 1 | Nov 4, 2021 |
| Generalized epilepsy with febrile seizures plus, type 2 | 1 | Nov 4, 2021 |
| Generalized epilepsy with febrile seizures plus, type 9 | 1 | Mar 14, 2024 |
| Genitourinary and/or brain malformation syndrome | 1 | Jun 17, 2021 |
| Gilbert syndrome | 1 | Mar 14, 2024 |
| Global developmental delay with or without impaired intellectual development | 1 | Dec 1, 2022 |
| Global developmental delay with speech and behavioral abnormalities | 1 | Oct 6, 2022 |
| Glycogen storage disease IXa1 | 1 | Nov 4, 2021 |
| Gorlin syndrome | 2 | Oct 6, 2022 |
| Growth delay due to insulin-like growth factor I resistance | 1 | Mar 14, 2024 |
| Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | 1 | Oct 6, 2022 |
| Hemochromatosis type 1 | 1 | Nov 4, 2021 |
| Hereditary spastic paraplegia 10 | 1 | Nov 4, 2021 |
| Hereditary spastic paraplegia 18 | 1 | Oct 6, 2022 |
| Hereditary spastic paraplegia 4 | 1 | Jun 17, 2021 |
| Hereditary spastic paraplegia 57 | 1 | Dec 3, 2021 |
| Hereditary spastic paraplegia 9A | 1 | Oct 6, 2022 |
| Hereditary spherocytosis type 2 | 1 | Oct 6, 2022 |
| Hogue-Janssens syndrome 1 | 1 | Jun 17, 2021 |
| Holoprosencephaly 12 with or without pancreatic agenesis | 1 | Nov 4, 2021 |
| Holt-Oram syndrome | 2 | Jul 5, 2021 |
| Hypercholesterolemia, autosomal dominant, type B | 1 | Nov 4, 2021 |
| Hyperpigmentation with or without hypopigmentation, familial progressive | 1 | Oct 6, 2022 |
| Hypertrophic cardiomyopathy 26 | 1 | Nov 4, 2021 |
| Hypertrophic cardiomyopathy 4 | 1 | Oct 6, 2022 |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 1 | Oct 6, 2022 |
| Hypotonia, ataxia, and delayed development syndrome | 1 | Oct 6, 2022 |
| Ichthyosis vulgaris | 1 | Jun 17, 2021 |
| Infantile convulsions and choreoathetosis | 1 | Dec 3, 2021 |
| Intellectual developmental disorder 59 | 1 | Oct 6, 2022 |
| Intellectual developmental disorder 61 | 2 | Oct 6, 2022 |
| Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | 1 | Nov 4, 2021 |
| Intellectual developmental disorder with autism and macrocephaly | 1 | Mar 14, 2024 |
| Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | 1 | Nov 4, 2021 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 1 | Oct 6, 2022 |
| Intellectual developmental disorder with dysmorphic facies and ptosis | 1 | Oct 6, 2022 |
| Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 2 | Oct 6, 2022 |
| Intellectual developmental disorder with poor growth and with or without seizures or ataxia | 1 | Oct 6, 2022 |
| Intellectual developmental disorder with severe speech and ambulation defects | 1 | Oct 6, 2022 |
| Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 1 | Mar 14, 2024 |
| Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 1 | Mar 14, 2024 |
| Intellectual developmental disorder, autosomal recessive 67 | 1 | Dec 3, 2021 |
| Intellectual disability, X-linked 1 | 1 | Oct 6, 2022 |
| Intellectual disability, X-linked 102 | 1 | Nov 4, 2021 |
| Intellectual disability, X-linked 104 | 1 | Dec 3, 2021 |
| Intellectual disability, X-linked 63 | 1 | Nov 21, 2023 |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 2 | Oct 6, 2022 |
| Intellectual disability, autosomal dominant 1 | 1 | Oct 6, 2022 |
| Intellectual disability, autosomal dominant 10 | 1 | Nov 21, 2023 |
| Intellectual disability, autosomal dominant 13 | 1 | Nov 4, 2021 |
| Intellectual disability, autosomal dominant 14 | 1 | Oct 6, 2022 |
| Intellectual disability, autosomal dominant 22 | 1 | Nov 4, 2021 |
| Intellectual disability, autosomal dominant 27 | 1 | Nov 21, 2023 |
| Intellectual disability, autosomal dominant 29 | 1 | Oct 6, 2022 |
| Intellectual disability, autosomal dominant 34 | 1 | Oct 6, 2022 |
| Intellectual disability, autosomal dominant 39 | 1 | Oct 6, 2022 |
| Intellectual disability, autosomal dominant 42 | 1 | Mar 14, 2024 |
| Intellectual disability, autosomal dominant 45 | 2 | Nov 4, 2021 |
| Intellectual disability, autosomal dominant 48 | 1 | Jun 17, 2021 |
| Intellectual disability, autosomal dominant 5 | 1 | Jun 17, 2021 |
| Intellectual disability, autosomal dominant 50 | 2 | Oct 6, 2022 |
| Intellectual disability, autosomal dominant 51 | 2 | Oct 6, 2022 |
| Intellectual disability, autosomal dominant 52 | 1 | Dec 3, 2021 |
| Intellectual disability, autosomal dominant 56 | 2 | Mar 14, 2024 |
| Intellectual disability, autosomal dominant 58 | 1 | Mar 14, 2024 |
| Intellectual disability, autosomal dominant 6 | 1 | Mar 14, 2024 |
| Intellectual disability, autosomal dominant 8 | 2 | Oct 6, 2022 |
| Intellectual disability, autosomal dominant 9 | 1 | Nov 4, 2021 |
| Intellectual disability, autosomal recessive 51 | 1 | Nov 4, 2021 |
| Intellectual disability, autosomal recessive 53 | 1 | Mar 14, 2024 |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 2 | Mar 14, 2024 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 1 | Jun 17, 2021 |
| KBG syndrome | 2 | Oct 6, 2022 |
| KDM5A-associated neurodevelopmental syndrome | 1 | Jan 25, 2024 |
| Kabuki syndrome 2 | 1 | Dec 3, 2021 |
| Keratosis palmoplantaris striata 2 | 1 | Oct 6, 2022 |
| Kleefstra syndrome 2 | 1 | Nov 21, 2023 |
| Koolen-de Vries syndrome | 1 | Mar 14, 2024 |
| LEOPARD syndrome 1 | 1 | Jun 17, 2021 |
| Lamb-Shaffer syndrome | 1 | Oct 6, 2022 |
| Landau-Kleffner syndrome | 2 | Nov 21, 2023 |
| Larsen syndrome | 1 | Nov 4, 2021 |
| Lateral meningocele syndrome | 1 | Nov 4, 2021 |
| Leber congenital amaurosis 8 | 2 | Oct 6, 2022 |
| Leber optic atrophy | 1 | Nov 4, 2021 |
| Left ventricular noncompaction 10 | 1 | Oct 6, 2022 |
| Lethal congenital contracture syndrome 11 | 2 | Jul 5, 2021 |
| Levy-Hollister syndrome | 1 | Oct 6, 2022 |
| Linear skin defects with multiple congenital anomalies 1 | 1 | Oct 6, 2022 |
| Lissencephaly due to TUBA1A mutation | 1 | Jun 17, 2021 |
| Loeys-Dietz syndrome 1 | 1 | Jun 17, 2021 |
| Long QT syndrome 2 | 1 | Oct 6, 2022 |
| Long QT syndrome 3 | 1 | Dec 3, 2021 |
| Lucey-Driscoll syndrome | 1 | Mar 14, 2024 |
| Luo-Schoch-Yamamoto syndrome | 1 | Mar 14, 2024 |
| Luscan-Lumish syndrome | 2 | Oct 6, 2022 |
| Lymphatic malformation 3 | 1 | Jun 17, 2021 |
| MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB | 1 | Mar 14, 2024 |
| MYH7-related skeletal myopathy | 1 | Oct 6, 2022 |
| Macrocephaly, acquired, with impaired intellectual development | 1 | Oct 6, 2022 |
| Malan overgrowth syndrome | 3 | Oct 6, 2022 |
| Malaria, susceptibility to | 1 | Jun 17, 2021 |
| Malignant hyperthermia, susceptibility to, 1 | 1 | Oct 6, 2022 |
| Malignant tumor of prostate | 1 | Dec 3, 2021 |
| Marfan syndrome | 2 | Mar 14, 2024 |
| Marshall-Smith syndrome | 1 | Nov 4, 2021 |
| Martsolf syndrome 2 | 1 | Oct 6, 2022 |
| Menke-Hennekam syndrome 1 | 1 | Oct 6, 2022 |
| Metachromatic leukodystrophy | 1 | Oct 6, 2022 |
| Microcephalic osteodysplastic dysplasia, Saul-Wilson type | 1 | Dec 3, 2021 |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 2 | Jul 5, 2021 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 1 | Mar 14, 2024 |
| Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | 1 | Mar 14, 2024 |
| Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | 1 | Oct 6, 2022 |
| Mowat-Wilson syndrome | 1 | Oct 6, 2022 |
| Moyamoya disease 2 | 1 | Oct 6, 2022 |
| Multicentric carpo-tarsal osteolysis with or without nephropathy | 1 | Oct 6, 2022 |
| Multiple congenital anomalies-neurodevelopmental syndrome, X-linked | 1 | Jun 17, 2021 |
| Multiple congenital exostosis | 1 | Jun 17, 2021 |
| Multiple cutaneous and mucosal venous malformations | 1 | Oct 6, 2022 |
| Myoclonic-astatic epilepsy | 1 | Oct 6, 2022 |
| Myofibrillar myopathy 5 | 1 | Mar 14, 2024 |
| Nager syndrome | 1 | Oct 6, 2022 |
| Neurodegeneration with ataxia and late-onset optic atrophy | 1 | Oct 6, 2022 |
| Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects | 1 | Mar 14, 2024 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 3 | Oct 6, 2022 |
| Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | 2 | Mar 14, 2024 |
| Neurodevelopmental disorder with language impairment and behavioral abnormalities | 1 | Nov 4, 2021 |
| Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities | 1 | Nov 4, 2021 |
| Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | 1 | Mar 14, 2024 |
| Neurodevelopmental disorder with or without early-onset generalized epilepsy | 3 | Mar 14, 2024 |
| Neurodevelopmental, jaw, eye, and digital syndrome | 2 | Oct 6, 2022 |
| Neurofibromatosis, type 1 | 1 | Oct 6, 2022 |
| Neuromuscular disease and ocular or auditory anomalies with or without seizures | 1 | Nov 21, 2023 |
| Neuronopathy, distal hereditary motor, autosomal recessive 7 | 1 | Mar 14, 2024 |
| Neuronopathy, distal hereditary motor, autosomal recessive 8 | 1 | Oct 6, 2022 |
| Neuronopathy, distal hereditary motor, type 5A | 1 | Nov 4, 2021 |
| Neuronopathy, distal hereditary motor, type 5B | 1 | Oct 6, 2022 |
| Neuroocular syndrome | 2 | Mar 14, 2024 |
| Neuropathy, hereditary motor and sensory, type 6A | 1 | Oct 6, 2022 |
| Nicolaides-Baraitser syndrome | 1 | Nov 4, 2021 |
| Niemann-Pick disease, type C1 | 1 | Jun 17, 2021 |
| Nizon-Isidor syndrome | 1 | Nov 4, 2021 |
| Noonan syndrome 1 | 2 | Nov 21, 2023 |
| Noonan syndrome 10 | 1 | Oct 6, 2022 |
| Noonan syndrome 4 | 1 | Oct 6, 2022 |
| Noonan syndrome 5 | 1 | Nov 21, 2023 |
| Nystagmus 1, congenital, X-linked | 1 | Oct 6, 2022 |
| O'Donnell-Luria-Rodan syndrome | 1 | Oct 6, 2022 |
| Occult macular dystrophy | 1 | Nov 4, 2021 |
| Oculocerebrofacial syndrome, Kaufman type | 1 | Oct 6, 2022 |
| Oculocutaneous albinism type 4 | 1 | Nov 21, 2023 |
| Okur-Chung neurodevelopmental syndrome | 1 | Nov 4, 2021 |
| Orofacial cleft 5 | 1 | Nov 4, 2021 |
| Osteogenesis imperfecta type I | 1 | Mar 14, 2024 |
| Osteogenesis imperfecta type III | 1 | Mar 14, 2024 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 1 | Mar 14, 2024 |
| Osteogenesis imperfecta, perinatal lethal | 1 | Mar 14, 2024 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 1 | Oct 6, 2022 |
| Pancreatic cancer, susceptibility to, 3 | 1 | Dec 3, 2021 |
| Parkinson disease, late-onset | 1 | Nov 4, 2021 |
| Parkinsonian-pyramidal syndrome | 1 | Nov 21, 2023 |
| Partial androgen insensitivity syndrome | 1 | Mar 14, 2024 |
| Patent ductus arteriosus 2 | 1 | Mar 14, 2024 |
| Peters plus syndrome | 1 | Oct 6, 2022 |
| Pfeiffer syndrome | 1 | Nov 4, 2021 |
| Phelan-McDermid syndrome | 1 | Oct 6, 2022 |
| Pigmented paravenous retinochoroidal atrophy | 1 | Nov 4, 2021 |
| Pilarowski-Bjornsson syndrome | 1 | Oct 6, 2022 |
| Pitt-Hopkins syndrome | 2 | Mar 14, 2024 |
| Pituitary hormone deficiency, combined, 2 | 1 | Oct 6, 2022 |
| Polycystic kidney disease, adult type | 1 | Nov 21, 2023 |
| Pontocerebellar hypoplasia type 1B | 1 | Oct 6, 2022 |
| Posterior polymorphous corneal dystrophy 3 | 1 | Mar 14, 2024 |
| Primary ciliary dyskinesia 18 | 1 | Mar 14, 2024 |
| Primary erythromelalgia | 1 | Oct 6, 2022 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 1 | Oct 6, 2022 |
| Prostate cancer, hereditary, 9 | 1 | Nov 4, 2021 |
| Radioulnar synostosis | 1 | Jun 17, 2021 |
| Rahman syndrome | 1 | Nov 4, 2021 |
| Retinitis pigmentosa 12 | 1 | Oct 6, 2022 |
| Retinitis pigmentosa 3 | 1 | Nov 4, 2021 |
| Retinitis pigmentosa 37 | 1 | Oct 6, 2022 |
| Retinitis pigmentosa 38 | 1 | Mar 14, 2024 |
| Rett syndrome | 2 | Mar 14, 2024 |
| Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | 1 | Oct 6, 2022 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 3 | Oct 6, 2022 |
| SIN3A-related intellectual disability syndrome due to a point mutation | 2 | Nov 4, 2021 |
| STING-associated vasculopathy with onset in infancy | 1 | Oct 6, 2022 |
| Seizures, benign familial infantile, 2 | 1 | Nov 4, 2021 |
| Seizures, benign familial neonatal, 2 | 1 | Nov 4, 2021 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 | Nov 4, 2021 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 1 | Oct 6, 2022 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 | Jun 17, 2021 |
| Short stature-pituitary and cerebellar defects-small sella turcica syndrome | 1 | Oct 6, 2022 |
| Snijders Blok-Campeau syndrome | 5 | Mar 14, 2024 |
| Sotos syndrome | 1 | Oct 6, 2022 |
| Spinocerebellar ataxia type 13 | 1 | Nov 4, 2021 |
| Spinocerebellar ataxia type 28 | 2 | Dec 3, 2021 |
| Spinocerebellar ataxia type 40 | 1 | Oct 6, 2022 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 1 | Oct 6, 2022 |
| Spondyloperipheral dysplasia | 1 | Nov 4, 2021 |
| Stickler syndrome type 1 | 1 | Oct 6, 2022 |
| Stickler syndrome, type I, nonsyndromic ocular | 1 | Mar 14, 2024 |
| Succinate-semialdehyde dehydrogenase deficiency | 1 | Nov 4, 2021 |
| Symphalangism, proximal, 1B | 1 | Nov 4, 2021 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 2 | Nov 4, 2021 |
| Thrombocytopenia 5 | 1 | Dec 3, 2021 |
| Thrombophilia due to activated protein C resistance | 1 | Oct 6, 2022 |
| Thyroid dyshormonogenesis 6 | 2 | Jul 5, 2021 |
| Tibial muscular dystrophy | 1 | Dec 3, 2021 |
| Timothy syndrome | 1 | Nov 4, 2021 |
| Tolchin-Le Caignec syndrome | 1 | Oct 6, 2022 |
| Tooth agenesis, selective, 4 | 1 | Nov 4, 2021 |
| Tremor, hereditary essential, 5 | 1 | Nov 4, 2021 |
| Ullrich congenital muscular dystrophy 1A | 1 | Nov 21, 2023 |
| Usher syndrome type 2A | 1 | Nov 4, 2021 |
| Usmani-Riazuddin syndrome, autosomal dominant | 1 | Mar 14, 2024 |
| Variegate porphyria | 1 | Nov 21, 2023 |
| Wiedemann-Steiner syndrome | 1 | Oct 6, 2022 |
| Williams syndrome | 1 | Dec 3, 2021 |
| Wolfram syndrome 1 | 1 | Jun 17, 2021 |
| Wolfram-like syndrome | 1 | Oct 6, 2022 |
| X-linked cone-rod dystrophy 1 | 1 | Oct 6, 2022 |
