| ALDH18A1-related de Barsy syndrome | 1 | Mar 3, 2025 |
| Acrofacial dysostosis Cincinnati type | 1 | Mar 3, 2025 |
| Adenine phosphoribosyltransferase deficiency | 1 | Mar 3, 2025 |
| Alternating hemiplegia of childhood 2 | 1 | Mar 3, 2025 |
| Angelman syndrome | 2 | Mar 3, 2025 |
| Aniridia 1 | 1 | Mar 3, 2025 |
| Arrhythmogenic right ventricular dysplasia 12 | 1 | Mar 3, 2025 |
| Arthrogryposis multiplex congenita 3, myogenic type | 1 | Mar 3, 2025 |
| Arthrogryposis, distal, with impaired proprioception and touch | 2 | Mar 3, 2025 |
| Ataxia-telangiectasia syndrome | 2 | Aug 26, 2022 |
| Auriculocondylar syndrome 2 | 1 | Mar 3, 2025 |
| Autism, susceptibility to, X-linked 2 | 2 | Mar 3, 2025 |
| Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 1 | Mar 3, 2025 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 1 | Mar 3, 2025 |
| Autosomal recessive ataxia, Beauce type | 1 | Mar 3, 2025 |
| Autosomal recessive complex spastic paraplegia type 9B | 1 | Mar 3, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 1 | Mar 3, 2025 |
| Autosomal recessive spinocerebellar ataxia 16 | 1 | Mar 3, 2025 |
| BSN related epilepsy | 2 | Mar 3, 2025 |
| Beck-Fahrner syndrome | 1 | Mar 3, 2025 |
| Beckwith-Wiedemann syndrome due to CDKN1C mutation | 1 | Nov 5, 2018 |
| Benign hereditary chorea | 1 | Mar 3, 2025 |
| Birk-Barel syndrome | 1 | Mar 3, 2025 |
| Brain malformations with or without urinary tract defects | 1 | Mar 3, 2025 |
| Breast and colorectal cancer, susceptibility to | 11 | Nov 18, 2020 |
| Breast cancer, susceptibility to | 1 | Aug 17, 2017 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 32 | Nov 7, 2022 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 4 | Aug 26, 2022 |
| Breast-ovarian cancer, familial, susceptibility to, 3 | 2 | Nov 5, 2018 |
| Breast-ovarian cancer, familial, susceptibility to, 4 | 1 | Nov 5, 2018 |
| Brugada syndrome 1 | 1 | Mar 3, 2025 |
| CBL-related disorder | 1 | Jul 19, 2024 |
| CHEK2-related cancer predisposition | 1 | Nov 6, 2020 |
| COACH syndrome 1 | 1 | Mar 3, 2025 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 2 | Mar 3, 2025 |
| Cardioacrofacial dysplasia 2 | 1 | Mar 3, 2025 |
| Carnitine palmitoyl transferase 1A deficiency | 1 | Mar 3, 2025 |
| Cataract 15 multiple types | 1 | Mar 3, 2025 |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 1 | Mar 3, 2025 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 2 | Mar 3, 2025 |
| Charcot-Marie-Tooth disease axonal type 2O | 1 | Mar 3, 2025 |
| Charcot-Marie-Tooth disease, demyelinating, IIA 1I | 1 | Mar 3, 2025 |
| Childhood onset GLUT1 deficiency syndrome 2 | 1 | Mar 3, 2025 |
| Cholestasis-pigmentary retinopathy-cleft palate syndrome | 1 | Mar 3, 2025 |
| Chopra-Amiel-Gordon syndrome | 1 | Mar 3, 2025 |
| Chromosome 2q32-q33 deletion syndrome | 1 | Mar 3, 2025 |
| Chronic infantile neurological, cutaneous and articular syndrome | 1 | Sep 22, 2022 |
| Coffin-Lowry syndrome | 2 | Mar 3, 2025 |
| Coffin-Siris syndrome 5 | 1 | Mar 3, 2025 |
| Colorectal cancer | 2 | Dec 5, 2025 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 12 | Feb 27, 2026 |
| Colorectal cancer, susceptibility to | 18 | Aug 26, 2022 |
| Colorectal cancer, susceptibility to, 12 | 7 | Nov 6, 2020 |
| Complex cortical dysplasia with other brain malformations 7 | 1 | Mar 3, 2025 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 1 | Mar 3, 2025 |
| Cornelia de Lange syndrome 1 | 2 | Mar 3, 2025 |
| Cowden syndrome | 6 | Mar 3, 2016 |
| Cowden syndrome 1 | 3 | Mar 3, 2025 |
| Creatine transporter deficiency | 1 | Mar 3, 2025 |
| Cutis laxa, autosomal dominant 3 | 1 | Mar 3, 2025 |
| D-2-hydroxyglutaric aciduria 1 | 1 | Mar 3, 2025 |
| DCHS1-related congenital anomalies of the kidney and urinary tract | 2 | Mar 3, 2025 |
| DOHH related neurodevelopmental disorder | 1 | Mar 3, 2025 |
| DYRK1A-related intellectual disability syndrome | 3 | Mar 3, 2025 |
| Deficiency of iodide peroxidase | 1 | Mar 3, 2025 |
| Desmoid disease, hereditary | 1 | Dec 5, 2025 |
| Developmental and epileptic encephalopathy 104 | 1 | Sep 27, 2024 |
| Developmental and epileptic encephalopathy, 26 | 1 | Mar 3, 2025 |
| Developmental and epileptic encephalopathy, 42 | 2 | Mar 3, 2025 |
| Developmental and epileptic encephalopathy, 64 | 1 | Mar 3, 2025 |
| Developmental and epileptic encephalopathy, 65 | 1 | Mar 3, 2025 |
| Developmental and epileptic encephalopathy, 7 | 1 | Mar 3, 2025 |
| Developmental delay with dysmorphic facies and dental anomalies | 1 | Jul 19, 2024 |
| Developmental delay with or without intellectual impairment or behavioral abnormalities | 1 | Mar 3, 2025 |
| DiGeorge syndrome | 1 | Mar 3, 2025 |
| Diamond-Blackfan anemia 3 | 1 | Mar 9, 2018 |
| Diamond-Blackfan anemia 6 | 1 | Nov 6, 2020 |
| Dihydropyrimidinase deficiency | 1 | Mar 3, 2025 |
| Dilated cardiomyopathy 1AA | 1 | Mar 3, 2025 |
| Dilated cardiomyopathy 1E | 1 | Mar 3, 2025 |
| Dystonia 12 | 1 | Mar 3, 2025 |
| Dystonia 28, childhood-onset | 1 | Mar 3, 2025 |
| Ehlers-Danlos syndrome | 1 | Nov 5, 2018 |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 1 | Mar 3, 2025 |
| Encephalopathy due to GLUT1 deficiency | 1 | Mar 3, 2025 |
| Encephalopathy, acute, infection-induced, susceptibility to, 9 | 1 | Mar 3, 2025 |
| Epilepsy, early-onset, with or without developmental delay | 1 | Mar 3, 2025 |
| FAM13A-related pulmonary fibrosis | 1 | Mar 3, 2025 |
| FG syndrome 4 | 1 | Mar 3, 2025 |
| Familial adenomatous polyposis 1 | 4 | Feb 27, 2026 |
| Familial adenomatous polyposis 2 | 2 | Nov 5, 2018 |
| Familial cancer of breast | 9 | Nov 5, 2018 |
| Familial colorectal cancer | 1 | Nov 5, 2018 |
| Familial multiple polyposis syndrome | 3 | Nov 5, 2018 |
| GABBR1-related neurodevelopmental disorder | 1 | Mar 3, 2025 |
| Gastrointestinal stromal tumor | 1 | Nov 5, 2018 |
| Generalized juvenile polyposis/juvenile polyposis coli | 2 | Nov 5, 2018 |
| Geroderma osteodysplastica | 1 | Mar 3, 2025 |
| Global developmental delay with or without impaired intellectual development | 1 | Mar 3, 2025 |
| Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | 2 | Mar 3, 2025 |
| Glycogen storage disease, type II | 1 | Mar 3, 2025 |
| Hereditary breast ovarian cancer syndrome | 8 | Nov 5, 2018 |
| Hereditary cancer-predisposing syndrome | 7393 | Mar 24, 2023 |
| Hereditary diffuse gastric adenocarcinoma | 4 | Feb 3, 2026 |
| Hereditary nonpolyposis colon cancer | 4 | Jan 27, 2023 |
| Hereditary spastic paraplegia 13 | 1 | Mar 3, 2025 |
| Hereditary spastic paraplegia 9A | 1 | Mar 3, 2025 |
| Hereditary spherocytosis type 2 | 1 | Mar 3, 2025 |
| Hereditary xanthinuria type 1 | 1 | Mar 3, 2025 |
| Hyperphosphatasia with intellectual disability syndrome 4 | 1 | Mar 3, 2025 |
| Hypertrophic cardiomyopathy 10 | 1 | Mar 3, 2025 |
| Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | 1 | Mar 3, 2025 |
| IMAGe syndrome | 1 | Nov 5, 2018 |
| ITSN1-related neurodevelopmental disorder | 1 | Mar 3, 2025 |
| Immunodeficiency, common variable, 12 | 1 | Aug 26, 2022 |
| Intellectual developmental disorder 61 | 1 | Mar 3, 2025 |
| Intellectual developmental disorder 62 | 1 | Mar 3, 2025 |
| Intellectual developmental disorder with autistic features and language delay, with or without seizures | 1 | Mar 3, 2025 |
| Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 1 | Mar 3, 2025 |
| Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism | 1 | Jul 19, 2024 |
| Intellectual developmental disorder with seizures and language delay | 1 | Mar 3, 2025 |
| Intellectual developmental disorder, autosomal dominant 65 | 1 | Mar 3, 2025 |
| Intellectual developmental disorder, autosomal dominant 68 | 1 | Mar 3, 2025 |
| Intellectual developmental disorder, autosomal recessive 71 | 1 | Mar 3, 2025 |
| Intellectual disability, X-linked 102 | 1 | Mar 3, 2025 |
| Intellectual disability, X-linked 104 | 1 | Mar 3, 2025 |
| Intellectual disability, X-linked 106 | 1 | Mar 3, 2025 |
| Intellectual disability, X-linked 93 | 1 | Mar 3, 2025 |
| Intellectual disability, X-linked, syndromic 33 | 2 | Mar 3, 2025 |
| Intellectual disability, autosomal dominant 13 | 1 | Mar 3, 2025 |
| Intellectual disability, autosomal dominant 16 | 1 | Mar 3, 2025 |
| Intellectual disability, autosomal dominant 34 | 1 | Mar 3, 2025 |
| Intellectual disability, autosomal dominant 39 | 2 | Mar 3, 2025 |
| Intellectual disability, autosomal dominant 5 | 2 | Mar 3, 2025 |
| Intellectual disability, autosomal dominant 50 | 1 | Mar 3, 2025 |
| Intellectual disability, autosomal dominant 52 | 3 | Mar 3, 2025 |
| Intellectual disability, autosomal dominant 53 | 1 | Mar 3, 2025 |
| Intellectual disability, autosomal dominant 54 | 1 | Mar 3, 2025 |
| Intellectual disability, autosomal dominant 56 | 1 | Mar 3, 2025 |
| Intellectual disability, autosomal recessive 65 | 2 | Mar 3, 2025 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 1 | Mar 3, 2025 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | Mar 3, 2025 |
| Irido-corneo-trabecular dysgenesis | 1 | Mar 3, 2025 |
| Isolated focal cortical dysplasia type II | 1 | Aug 26, 2022 |
| Joubert syndrome 6 | 1 | Mar 3, 2025 |
| Juvenile polyposis syndrome | 2 | Feb 27, 2026 |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 1 | Nov 6, 2020 |
| Kleefstra syndrome 1 | 1 | Mar 3, 2025 |
| Kleefstra syndrome 2 | 1 | Mar 3, 2025 |
| Kohlschutter-Tonz syndrome-like | 1 | Jul 19, 2024 |
| Li-Fraumeni syndrome | 4 | Dec 3, 2020 |
| Li-Fraumeni syndrome 1 | 1 | Feb 3, 2026 |
| Lissencephaly 9 with complex brainstem malformation | 1 | Mar 3, 2025 |
| Long QT syndrome 3 | 1 | Mar 3, 2025 |
| Lynch syndrome | 250 | Dec 28, 2018 |
| Lynch syndrome 1 | 10 | Feb 27, 2026 |
| Lynch syndrome 4 | 7 | Feb 27, 2026 |
| Lynch syndrome 5 | 17 | Feb 27, 2026 |
| Macrocephaly, acquired, with impaired intellectual development | 1 | Mar 3, 2025 |
| Macrocephaly-autism syndrome | 1 | Mar 3, 2025 |
| Malan overgrowth syndrome | 1 | Mar 3, 2025 |
| Marshall-Smith syndrome | 1 | Mar 3, 2025 |
| Meckel syndrome, type 3 | 1 | Mar 3, 2025 |
| Menke-Hennekam syndrome 1 | 1 | Mar 3, 2025 |
| Microcephaly 18, primary, autosomal dominant | 1 | Mar 3, 2025 |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 1 | Mar 3, 2025 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 1 | Mar 3, 2025 |
| Mismatch repair cancer syndrome 3 | 2 | Mar 3, 2025 |
| Mucopolysaccharidosis, MPS-III-C | 1 | Mar 3, 2025 |
| Multicentric osteolysis, nodulosis, and arthropathy | 1 | Mar 3, 2025 |
| Multiple endocrine neoplasia, type 1 | 1 | Nov 5, 2018 |
| Multiple epiphyseal dysplasia type 1 | 1 | Mar 3, 2025 |
| Muscular dystrophy, limb-girdle, autosomal dominant 4 | 1 | Mar 3, 2025 |
| Nephronophthisis 11 | 1 | Mar 3, 2025 |
| Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects | 1 | Jul 19, 2024 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 1 | Jul 19, 2024 |
| Neurodevelopmental disorder with epilepsy and brain atrophy | 1 | Sep 27, 2024 |
| Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum | 1 | Mar 3, 2025 |
| Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | 1 | Mar 3, 2025 |
| Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures | 1 | Mar 3, 2025 |
| Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | 2 | Mar 3, 2025 |
| Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | 1 | Mar 3, 2025 |
| Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 2 | Mar 3, 2025 |
| Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 1 | Mar 3, 2025 |
| Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | 1 | Mar 3, 2025 |
| Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | 1 | Mar 3, 2025 |
| Neurodevelopmental disorder with speech impairment and dysmorphic facies | 1 | Mar 3, 2025 |
| Neurodevelopmental disorder with visual defects and brain anomalies | 1 | Mar 3, 2025 |
| Neurofibromatosis, type 2 | 1 | Feb 27, 2026 |
| Neuroocular syndrome 1 | 1 | Mar 3, 2025 |
| Niemann-Pick disease, type C1 | 1 | Mar 3, 2025 |
| Noonan syndrome 10 | 1 | Mar 3, 2025 |
| Noonan syndrome 12 | 1 | Mar 3, 2025 |
| O'Donnell-Luria-Rodan syndrome | 2 | Mar 3, 2025 |
| Oculocutaneous albinism type 4 | 1 | Mar 3, 2025 |
| Oligodontia-cancer predisposition syndrome | 1 | Nov 5, 2018 |
| Osteoporosis, childhood- or juvenile-onset, with developmental delay | 1 | Mar 3, 2025 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 1 | Mar 3, 2025 |
| POU3F2-related disorder | 1 | Mar 3, 2025 |
| Pancreatic cancer, susceptibility to, 1 | 2 | Aug 26, 2022 |
| Peutz-Jeghers syndrome | 2 | Nov 5, 2018 |
| Phelan-McDermid syndrome | 1 | Mar 3, 2025 |
| Pheochromocytoma/paraganglioma syndrome 5 | 1 | Nov 6, 2020 |
| Pilarowski-Bjornsson syndrome | 1 | Mar 3, 2025 |
| Pitt-Hopkins syndrome | 2 | Mar 3, 2025 |
| Pleuropulmonary blastoma | 1 | Nov 14, 2025 |
| Poirier-Bienvenu neurodevelopmental syndrome | 1 | Mar 3, 2025 |
| Polycystic kidney disease 2 | 1 | Mar 3, 2025 |
| Primary ciliary dyskinesia 23 | 1 | Mar 3, 2025 |
| Primrose syndrome | 1 | Mar 3, 2025 |
| Prostate cancer susceptibility | 1 | Mar 3, 2016 |
| Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 1 | Mar 3, 2025 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 1 | Mar 3, 2025 |
| Radio-Tartaglia syndrome | 2 | Mar 3, 2025 |
| Rauch-Steindl syndrome | 1 | Mar 3, 2025 |
| Renal hypomagnesemia 5 with ocular involvement | 1 | Mar 3, 2025 |
| Renal tubular acidosis with progressive nerve deafness | 1 | Mar 3, 2025 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 1 | Mar 3, 2025 |
| SLC32A1-related epilepsy | 1 | Mar 3, 2025 |
| SMAD2- related Loeys-Dietz syndrome | 1 | Mar 3, 2025 |
| SOX17-related pulmonary arterial hypertension | 1 | Mar 3, 2025 |
| Schaaf-Yang syndrome | 1 | Mar 3, 2025 |
| Schuurs-Hoeijmakers syndrome | 1 | Jul 19, 2024 |
| Seizures, benign familial neonatal, 1 | 1 | Mar 3, 2025 |
| Septo-optic dysplasia sequence | 1 | Mar 3, 2025 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 2 | Mar 3, 2025 |
| Short stature due to growth hormone secretagogue receptor deficiency | 1 | Mar 3, 2025 |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 1 | Mar 3, 2025 |
| Shukla-Vernon syndrome | 1 | Mar 3, 2025 |
| Shwachman-Diamond syndrome 1 | 1 | Mar 3, 2025 |
| Smith-Magenis syndrome | 1 | Mar 3, 2025 |
| Snijders Blok-Campeau syndrome | 1 | Mar 3, 2025 |
| Sotos syndrome | 2 | Mar 3, 2025 |
| Spastic ataxia 2 | 1 | Mar 3, 2025 |
| Spinocerebellar ataxia 48 | 1 | Mar 3, 2025 |
| Sucrase-isomaltase deficiency | 1 | Mar 3, 2025 |
| Tatton-Brown-Rahman overgrowth syndrome | 1 | Mar 3, 2025 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 1 | Nov 5, 2018 |
| Tuberous sclerosis 1 | 1 | Aug 26, 2022 |
| Tumor predisposition syndrome 3 | 1 | Nov 6, 2020 |
| Ulnar-mammary syndrome | 1 | Mar 3, 2025 |
| Usmani-Riazuddin syndrome, autosomal dominant | 2 | Mar 3, 2025 |
| VPS13A-related neurodegenerative disease | 2 | Mar 3, 2025 |
| Velocardiofacial syndrome | 1 | Mar 3, 2025 |
| Vissers-Bodmer syndrome | 2 | Mar 3, 2025 |
| Warburg micro syndrome 3 | 2 | Mar 3, 2025 |
| Weiss-Kruszka syndrome | 2 | Mar 3, 2025 |
| Wilms tumor susceptibility | 1 | Mar 3, 2025 |
| Woodhouse-Sakati syndrome | 1 | Mar 3, 2025 |
| X-linked intellectual disability-short stature-overweight syndrome | 1 | Mar 3, 2025 |
| ZTTK syndrome | 1 | Mar 3, 2025 |
