| 2-aminoadipic 2-oxoadipic aciduria | 1 | Feb 21, 2024 |
| 8q24.3 microdeletion syndrome | 2 | Feb 21, 2024 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 1 | Feb 21, 2024 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 3 | Feb 21, 2024 |
| ALDH18A1-related de Barsy syndrome | 1 | Feb 21, 2024 |
| Acquired hemoglobin H disease | 1 | Feb 21, 2024 |
| Acute lymphoid leukemia | 1 | Feb 21, 2024 |
| Acute myeloid leukemia | 1 | Feb 21, 2024 |
| Al Kaissi syndrome | 1 | Feb 21, 2024 |
| Alexander disease | 1 | Feb 21, 2024 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 1 | Feb 21, 2024 |
| Amyotrophic lateral sclerosis type 5 | 1 | Feb 21, 2024 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 1 | Feb 21, 2024 |
| Angelman syndrome | 2 | Feb 21, 2024 |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 1 | Feb 21, 2024 |
| Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | 1 | Feb 21, 2024 |
| Autism spectrum disorder due to AUTS2 deficiency | 1 | Feb 21, 2024 |
| Autism, susceptibility to, 17 | 1 | Feb 21, 2024 |
| Autism, susceptibility to, 5 | 1 | Feb 21, 2024 |
| Autism, susceptibility to, X-linked 3 | 4 | Feb 21, 2024 |
| Autism, susceptibility to, X-linked 5 | 1 | Feb 21, 2024 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | Feb 21, 2024 |
| Autosomal dominant nonsyndromic hearing loss 20 | 1 | Feb 21, 2024 |
| Autosomal recessive DOPA responsive dystonia | 2 | Feb 21, 2024 |
| Autosomal recessive Parkinson disease 14 | 2 | Feb 21, 2024 |
| Autosomal recessive complex spastic paraplegia type 9B | 1 | Feb 21, 2024 |
| Autosomal recessive pseudohypoaldosteronism type 1 | 1 | Feb 21, 2024 |
| Baraitser-winter syndrome 2 | 1 | Feb 21, 2024 |
| Bardet-Biedl syndrome 15 | 2 | Feb 21, 2024 |
| Basilicata-Akhtar syndrome | 1 | Feb 21, 2024 |
| Biotinidase deficiency | 1 | Feb 21, 2024 |
| Blepharophimosis - intellectual disability syndrome, MKB type | 1 | Feb 21, 2024 |
| Bohring-Opitz syndrome | 1 | Feb 21, 2024 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 2 | Feb 21, 2024 |
| Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome | 2 | Feb 21, 2024 |
| Bronchiectasis with or without elevated sweat chloride 1 | 1 | Feb 21, 2024 |
| Bronchiectasis with or without elevated sweat chloride 2 | 1 | Feb 21, 2024 |
| Brunner syndrome | 1 | Feb 21, 2024 |
| CHARGE syndrome | 1 | Feb 21, 2024 |
| Café-au-lait macules with pulmonary stenosis | 1 | Feb 21, 2024 |
| Capillary infantile hemangioma | 1 | Feb 21, 2024 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 2 | Feb 21, 2024 |
| Central core myopathy | 1 | Feb 21, 2024 |
| Charcot-Marie-Tooth disease axonal type 2Q | 1 | Feb 21, 2024 |
| Charcot-Marie-Tooth disease axonal type 2X | 1 | Feb 21, 2024 |
| Charcot-Marie-Tooth disease type 2Y | 1 | Feb 21, 2024 |
| Childhood apraxia of speech | 1 | Feb 21, 2024 |
| Chitayat syndrome | 1 | Feb 21, 2024 |
| Cholestasis-pigmentary retinopathy-cleft palate syndrome | 1 | Feb 21, 2024 |
| Chromosome 2p16.3 deletion syndrome | 1 | Feb 21, 2024 |
| Chromosome 2q32-q33 deletion syndrome | 1 | Feb 21, 2024 |
| Clark-Baraitser syndrome | 1 | Feb 21, 2024 |
| Coffin-Lowry syndrome | 1 | Feb 21, 2024 |
| Coffin-Siris syndrome 7 | 1 | Feb 21, 2024 |
| Coffin-Siris syndrome 8 | 1 | Feb 21, 2024 |
| Cognitive impairment with or without cerebellar ataxia | 1 | Feb 21, 2024 |
| Colorectal cancer | 1 | Feb 21, 2024 |
| Colorectal cancer, hereditary nonpolyposis, type 6 | 1 | Feb 21, 2024 |
| Complex cortical dysplasia with other brain malformations 7 | 1 | Feb 21, 2024 |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | 1 | Feb 21, 2024 |
| Congenital heart defects, multiple types, 2 | 1 | Feb 21, 2024 |
| Congenital heart defects, multiple types, 7 | 1 | Feb 21, 2024 |
| Congenital multicore myopathy with external ophthalmoplegia | 1 | Feb 21, 2024 |
| Congenital muscular hypertrophy-cerebral syndrome | 4 | Feb 21, 2024 |
| Congenital myasthenic syndrome 18 | 1 | Feb 21, 2024 |
| Congenital nongoitrous hypothyroidism 6 | 1 | Feb 21, 2024 |
| Corneal dystrophy, Fuchs endothelial, 3 | 3 | Feb 21, 2024 |
| Cornelia de Lange syndrome 1 | 1 | Feb 21, 2024 |
| Cornelia de Lange syndrome 5 | 1 | Feb 21, 2024 |
| Corpus callosum agenesis-abnormal genitalia syndrome | 1 | Feb 21, 2024 |
| Creatine transporter deficiency | 1 | Feb 21, 2024 |
| Cutis laxa, autosomal dominant 3 | 1 | Feb 21, 2024 |
| Cystic fibrosis | 1 | Feb 21, 2024 |
| DeSanto-Shinawi syndrome due to WAC point mutation | 1 | Feb 21, 2024 |
| Deficiency of alpha-mannosidase | 2 | Feb 21, 2024 |
| Developmental and epileptic encephalopathy 101 | 1 | Feb 21, 2024 |
| Developmental and epileptic encephalopathy 6B | 2 | Feb 21, 2024 |
| Developmental and epileptic encephalopathy 94 | 1 | Feb 21, 2024 |
| Developmental and epileptic encephalopathy, 1 | 1 | Feb 21, 2024 |
| Developmental and epileptic encephalopathy, 11 | 1 | Feb 21, 2024 |
| Developmental and epileptic encephalopathy, 13 | 1 | Feb 21, 2024 |
| Developmental and epileptic encephalopathy, 26 | 1 | Feb 21, 2024 |
| Developmental and epileptic encephalopathy, 27 | 2 | Feb 21, 2024 |
| Developmental and epileptic encephalopathy, 4 | 2 | Feb 21, 2024 |
| Developmental and epileptic encephalopathy, 42 | 1 | Feb 21, 2024 |
| Developmental and epileptic encephalopathy, 44 | 1 | Feb 21, 2024 |
| Developmental and epileptic encephalopathy, 5 | 1 | Feb 21, 2024 |
| Developmental and epileptic encephalopathy, 7 | 1 | Feb 21, 2024 |
| Developmental and epileptic encephalopathy, 73 | 1 | Feb 21, 2024 |
| Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 4 | Feb 21, 2024 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 2 | Feb 21, 2024 |
| Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | 1 | Feb 21, 2024 |
| Dias-Logan syndrome | 1 | Feb 21, 2024 |
| Dilated cardiomyopathy 1S | 1 | Feb 21, 2024 |
| Distal arthrogryposis type 2B1 | 1 | Feb 21, 2024 |
| Distal arthrogryposis type 5D | 1 | Feb 21, 2024 |
| Endometrial carcinoma | 1 | Feb 21, 2024 |
| Epileptic encephalopathy, infantile or early childhood, 1 | 1 | Feb 21, 2024 |
| Episodic ataxia type 2 | 1 | Feb 21, 2024 |
| Episodic ataxia, type 9 | 1 | Feb 21, 2024 |
| Exudative vitreoretinopathy 7 | 1 | Feb 21, 2024 |
| FG syndrome 1 | 1 | Feb 21, 2024 |
| FG syndrome 4 | 1 | Feb 21, 2024 |
| Familial cancer of breast | 1 | Feb 21, 2024 |
| Febrile seizures, familial, 11 | 2 | Feb 21, 2024 |
| Floating-Harbor syndrome | 1 | Feb 21, 2024 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | 1 | Feb 21, 2024 |
| Generalized epilepsy with febrile seizures plus, type 2 | 2 | Feb 21, 2024 |
| Glycogen storage disease IXa1 | 1 | Feb 21, 2024 |
| Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 1 | Feb 21, 2024 |
| Growth delay due to insulin-like growth factor I resistance | 2 | Feb 21, 2024 |
| Hearing loss, autosomal dominant 75 | 1 | Feb 21, 2024 |
| Hearing loss, autosomal dominant 83 | 1 | Feb 21, 2024 |
| Heart defect - tongue hamartoma - polysyndactyly syndrome | 2 | Feb 21, 2024 |
| Hennekam lymphangiectasia-lymphedema syndrome 2 | 2 | Feb 21, 2024 |
| Hepatocellular carcinoma | 1 | Feb 21, 2024 |
| Hereditary lymphedema type I | 1 | Feb 21, 2024 |
| Hereditary pancreatitis | 1 | Feb 21, 2024 |
| Hereditary spastic paraplegia 11 | 1 | Feb 21, 2024 |
| Hereditary spastic paraplegia 30 | 1 | Feb 21, 2024 |
| Hereditary spastic paraplegia 9A | 1 | Feb 21, 2024 |
| Heyn-Sproul-Jackson syndrome | 1 | Feb 21, 2024 |
| Hypertrophic cardiomyopathy 1 | 1 | Feb 21, 2024 |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 1 | Feb 21, 2024 |
| Hypotonia, ataxia, and delayed development syndrome | 1 | Feb 21, 2024 |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | 1 | Feb 21, 2024 |
| Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | 1 | Feb 21, 2024 |
| Infantile neuroaxonal dystrophy | 2 | Feb 21, 2024 |
| Intellectual developmental disorder 60 with seizures | 1 | Feb 21, 2024 |
| Intellectual developmental disorder with autism and macrocephaly | 1 | Feb 21, 2024 |
| Intellectual developmental disorder with autistic features and language delay, with or without seizures | 1 | Feb 21, 2024 |
| Intellectual developmental disorder with dysmorphic facies and ptosis | 1 | Feb 21, 2024 |
| Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 1 | Feb 21, 2024 |
| Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 1 | Feb 21, 2024 |
| Intellectual developmental disorder, X-linked 112 | 1 | Feb 21, 2024 |
| Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 1 | Feb 21, 2024 |
| Intellectual developmental disorder, autosomal dominant 65 | 1 | Feb 21, 2024 |
| Intellectual disability, X-linked 102 | 2 | Feb 21, 2024 |
| Intellectual disability, X-linked 104 | 1 | Feb 21, 2024 |
| Intellectual disability, X-linked 19 | 1 | Feb 21, 2024 |
| Intellectual disability, X-linked 49 | 2 | Feb 21, 2024 |
| Intellectual disability, X-linked 90 | 1 | Feb 21, 2024 |
| Intellectual disability, X-linked 96 | 1 | Feb 21, 2024 |
| Intellectual disability, X-linked syndromic, Turner type | 3 | Feb 21, 2024 |
| Intellectual disability, X-linked, syndromic, 35 | 1 | Feb 21, 2024 |
| Intellectual disability, X-linked, with or without seizures, arx-related | 1 | Feb 21, 2024 |
| Intellectual disability, autosomal dominant 14 | 1 | Feb 21, 2024 |
| Intellectual disability, autosomal dominant 22 | 1 | Feb 21, 2024 |
| Intellectual disability, autosomal dominant 29 | 1 | Feb 21, 2024 |
| Intellectual disability, autosomal dominant 30 | 2 | Feb 21, 2024 |
| Intellectual disability, autosomal dominant 39 | 2 | Feb 21, 2024 |
| Intellectual disability, autosomal dominant 40 | 1 | Feb 21, 2024 |
| Intellectual disability, autosomal dominant 41 | 1 | Feb 21, 2024 |
| Intellectual disability, autosomal dominant 42 | 1 | Feb 21, 2024 |
| Intellectual disability, autosomal dominant 43 | 2 | Feb 21, 2024 |
| Intellectual disability, autosomal dominant 45 | 2 | Feb 21, 2024 |
| Intellectual disability, autosomal dominant 5 | 1 | Feb 21, 2024 |
| Intellectual disability, autosomal dominant 52 | 1 | Feb 21, 2024 |
| Intellectual disability, autosomal dominant 8 | 1 | Feb 21, 2024 |
| Intellectual disability, autosomal dominant 9 | 1 | Feb 21, 2024 |
| Intellectual disability, autosomal recessive 44 | 2 | Feb 21, 2024 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 1 | Feb 21, 2024 |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 1 | Feb 21, 2024 |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 1 | Feb 21, 2024 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 3 | Feb 21, 2024 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 2 | Feb 21, 2024 |
| Isolated focal cortical dysplasia type II | 2 | Feb 21, 2024 |
| Juvenile myelomonocytic leukemia | 3 | Feb 21, 2024 |
| KBG syndrome | 8 | Feb 21, 2024 |
| KDM2B Gene Mutation | 1 | Feb 21, 2024 |
| Kabuki syndrome 1 | 2 | Feb 21, 2024 |
| King Denborough syndrome | 1 | Feb 21, 2024 |
| Kleefstra syndrome 1 | 1 | Feb 21, 2024 |
| Kleefstra syndrome 2 | 1 | Feb 21, 2024 |
| LEOPARD syndrome 1 | 2 | Feb 21, 2024 |
| Lamb-Shaffer syndrome | 1 | Feb 21, 2024 |
| Liddle syndrome 3 | 1 | Feb 21, 2024 |
| Lissencephaly due to TUBA1A mutation | 2 | Feb 21, 2024 |
| Loeys-Dietz syndrome 2 | 1 | Feb 21, 2024 |
| Lymphangiomyomatosis | 1 | Feb 21, 2024 |
| Lynch syndrome 5 | 1 | Feb 21, 2024 |
| MASA syndrome | 1 | Feb 21, 2024 |
| MEHMO syndrome | 1 | Feb 21, 2024 |
| MYH7-related skeletal myopathy | 1 | Feb 21, 2024 |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 1 | Feb 21, 2024 |
| Malan overgrowth syndrome | 1 | Feb 21, 2024 |
| Malignant hyperthermia, susceptibility to, 1 | 1 | Feb 21, 2024 |
| Malignant tumor of esophagus | 1 | Feb 21, 2024 |
| Mandibulofacial dysostosis-microcephaly syndrome | 1 | Feb 21, 2024 |
| Marshall-Smith syndrome | 1 | Feb 21, 2024 |
| Medulloblastoma | 1 | Feb 21, 2024 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | 1 | Feb 21, 2024 |
| Metachondromatosis | 2 | Feb 21, 2024 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 1 | Feb 21, 2024 |
| Migraine, familial hemiplegic, 1 | 1 | Feb 21, 2024 |
| Migraine, familial hemiplegic, 3 | 2 | Feb 21, 2024 |
| Mismatch repair cancer syndrome 3 | 1 | Feb 21, 2024 |
| Mitral valve prolapse, myxomatous 2 | 1 | Feb 21, 2024 |
| Mowat-Wilson syndrome | 1 | Feb 21, 2024 |
| Multiple sulfatase deficiency | 1 | Feb 21, 2024 |
| Myelodysplastic syndrome | 2 | Feb 21, 2024 |
| Myoclonus, familial, 2 | 1 | Feb 21, 2024 |
| Myopathy, myosin storage, autosomal recessive | 1 | Feb 21, 2024 |
| Myosin storage myopathy | 1 | Feb 21, 2024 |
| Neurodegeneration with brain iron accumulation 2B | 2 | Feb 21, 2024 |
| Neurodegeneration with brain iron accumulation 5 | 1 | Feb 21, 2024 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 1 | Feb 21, 2024 |
| Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | 1 | Feb 21, 2024 |
| Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | 1 | Feb 21, 2024 |
| Neurofibromatosis, familial spinal | 1 | Feb 21, 2024 |
| Neurofibromatosis, type 1 | 1 | Feb 21, 2024 |
| Neurofibromatosis-Noonan syndrome | 1 | Feb 21, 2024 |
| Neuropathy, hereditary sensory and autonomic, type 2A | 1 | Feb 21, 2024 |
| Neuropathy, hereditary sensory, type 2C | 1 | Feb 21, 2024 |
| Noonan syndrome 1 | 2 | Feb 21, 2024 |
| Oculocutaneous albinism type 7 | 1 | Feb 21, 2024 |
| Ovarian neoplasm | 1 | Feb 21, 2024 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 2 | Feb 21, 2024 |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 1 | Feb 21, 2024 |
| Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | 1 | Feb 21, 2024 |
| Partington syndrome | 1 | Feb 21, 2024 |
| Periventricular nodular heterotopia 8 | 1 | Feb 21, 2024 |
| Periventricular nodular heterotopia 9 | 1 | Feb 21, 2024 |
| Phelan-McDermid syndrome | 2 | Feb 21, 2024 |
| Pierpont syndrome | 1 | Feb 21, 2024 |
| Pilomatrixoma | 1 | Feb 21, 2024 |
| Pitt-Hopkins syndrome | 3 | Feb 21, 2024 |
| Pitt-Hopkins-like syndrome 2 | 1 | Feb 21, 2024 |
| Prieto syndrome | 1 | Feb 21, 2024 |
| Radio-Tartaglia syndrome | 1 | Feb 21, 2024 |
| Renpenning syndrome | 1 | Feb 21, 2024 |
| Rett syndrome | 4 | Feb 21, 2024 |
| Rett syndrome, congenital variant | 1 | Feb 21, 2024 |
| SIN3A-related intellectual disability syndrome due to a point mutation | 1 | Feb 21, 2024 |
| Schinzel-Giedion syndrome | 1 | Feb 21, 2024 |
| Schizophrenia 15 | 2 | Feb 21, 2024 |
| Seizures, benign familial infantile, 3 | 1 | Feb 21, 2024 |
| Seizures, benign familial infantile, 5 | 1 | Feb 21, 2024 |
| Seizures, benign familial neonatal, 1 | 1 | Feb 21, 2024 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 3 | Feb 21, 2024 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 | Feb 21, 2024 |
| Severe myoclonic epilepsy in infancy | 2 | Feb 21, 2024 |
| Severe neonatal-onset encephalopathy with microcephaly | 4 | Feb 21, 2024 |
| Sotos syndrome | 1 | Feb 21, 2024 |
| Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | 1 | Feb 21, 2024 |
| Spinocerebellar ataxia type 6 | 1 | Feb 21, 2024 |
| Spinocerebellar ataxia, autosomal recessive 24 | 1 | Feb 21, 2024 |
| Succinate-semialdehyde dehydrogenase deficiency | 2 | Feb 21, 2024 |
| Syndromic X-linked intellectual disability 14 | 1 | Feb 21, 2024 |
| Syndromic X-linked intellectual disability 34 | 1 | Feb 21, 2024 |
| Syndromic X-linked intellectual disability 94 | 1 | Feb 21, 2024 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 3 | Feb 21, 2024 |
| Syndromic X-linked intellectual disability Lubs type | 4 | Feb 21, 2024 |
| Syndromic X-linked intellectual disability Najm type | 1 | Feb 21, 2024 |
| Tatton-Brown-Rahman overgrowth syndrome | 1 | Feb 21, 2024 |
| Tolchin-Le Caignec syndrome | 1 | Feb 21, 2024 |
| Tuberous sclerosis 2 | 1 | Feb 21, 2024 |
| Van Maldergem syndrome 1 | 1 | Feb 21, 2024 |
| Van Maldergem syndrome 2 | 2 | Feb 21, 2024 |
| Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | 1 | Feb 21, 2024 |
| Very long chain acyl-CoA dehydrogenase deficiency | 2 | Feb 21, 2024 |
| Visceral myopathy 1 | 1 | Feb 21, 2024 |
| Wiedemann-Steiner syndrome | 1 | Feb 21, 2024 |
| X-linked complicated corpus callosum dysgenesis | 1 | Feb 21, 2024 |
| X-linked hydrocephalus syndrome | 1 | Feb 21, 2024 |
| X-linked intellectual disability Cabezas type | 1 | Feb 21, 2024 |
| X-linked intellectual disability with marfanoid habitus | 1 | Feb 21, 2024 |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 4 | Feb 21, 2024 |
| X-linked lissencephaly with abnormal genitalia | 1 | Feb 21, 2024 |
