| Acute myeloid leukemia | 1 | Nov 4, 2021 |
| Age-related macular degeneration 2 | 2 | Dec 3, 2021 |
| Alagille syndrome 1 | 2 | Nov 4, 2021 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 1 | Nov 4, 2021 |
| Alstrom syndrome | 2 | Jul 5, 2021 |
| Amyloidogenic transthyretin amyloidosis | 1 | Jun 17, 2021 |
| Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | 1 | Nov 4, 2021 |
| Arrhythmogenic right ventricular cardiomyopathy, type 11 | 1 | Nov 4, 2021 |
| Atrial fibrillation, familial, 13 | 1 | Nov 4, 2021 |
| Atrial septal defect 3 | 1 | Nov 4, 2021 |
| Auriculocondylar syndrome 2 | 1 | Nov 4, 2021 |
| Autism 17 | 1 | Jun 17, 2021 |
| Autism 5 | 1 | Nov 4, 2021 |
| Autism, susceptibility to, X-linked 1 | 1 | Dec 3, 2021 |
| Bainbridge-Ropers syndrome | 1 | Nov 4, 2021 |
| Baraitser-Winter syndrome 1 | 1 | Jun 17, 2021 |
| Bardet-Biedl syndrome 19 | 1 | Nov 4, 2021 |
| Benign familial neonatal seizures 2 | 1 | Nov 4, 2021 |
| Bethlem myopathy 2 | 1 | Nov 4, 2021 |
| Bohring-Opitz syndrome | 1 | Jun 17, 2021 |
| Bone osteosarcoma | 1 | Nov 4, 2021 |
| Cardiofaciocutaneous syndrome 3 | 1 | Dec 3, 2021 |
| Cardiofaciocutaneous syndrome 4 | 1 | Jun 17, 2021 |
| Cardiomyopathy, familial hypertrophic, 26 | 1 | Nov 4, 2021 |
| Char syndrome | 1 | Dec 3, 2021 |
| Charcot-Marie-Tooth disease axonal type 2K | 2 | Nov 4, 2021 |
| Charcot-Marie-Tooth disease type 2E | 1 | Nov 4, 2021 |
| Charcot-Marie-Tooth disease, axonal, type 2T | 1 | Dec 3, 2021 |
| Charcot-marie-tooth disease, axonal, type 2DD | 1 | Jun 17, 2021 |
| Choroidal dystrophy, central areolar 2 | 1 | Dec 3, 2021 |
| 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 | 1 | Nov 4, 2021 |
| Cognitive impairment with or without cerebellar ataxia | 1 | Jun 15, 2021 |
| Combined saposin deficiency | 1 | Jun 17, 2021 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 1 | Nov 4, 2021 |
| Cornelia de Lange syndrome 1 | 2 | Nov 4, 2021 |
| Cornelia de Lange syndrome 3 | 1 | Nov 4, 2021 |
| Cortical dysplasia, complex, with other brain malformations 5 | 1 | Nov 4, 2021 |
| Cowden syndrome 1 | 1 | Jun 17, 2021 |
| Cowden syndrome 7 | 1 | Nov 4, 2021 |
| Danon disease | 1 | Jun 17, 2021 |
| Deafness, autosomal dominant 3a | 1 | Nov 4, 2021 |
| Developmental and epileptic encephalopathy, 42 | 1 | Dec 3, 2021 |
| Developmental delay with or without dysmorphic facies and autism | 2 | Nov 4, 2021 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 1 | Dec 3, 2021 |
| Diaphyseal medullary stenosis-bone malignancy syndrome | 1 | Nov 4, 2021 |
| Dilated cardiomyopathy 1S | 1 | Nov 4, 2021 |
| Dystonia 12 | 1 | Jun 17, 2021 |
| Early infantile epileptic encephalopathy 7 | 1 | Dec 3, 2021 |
| Epilepsy, focal, with speech disorder and with or without mental retardation | 1 | Nov 4, 2021 |
| Epilepsy, hearing loss, and mental retardation syndrome | 2 | Jul 5, 2021 |
| Epilepsy, idiopathic generalized, susceptibility to, 11 | 1 | Nov 4, 2021 |
| Epileptic encephalopathy, early infantile, 26 | 2 | Jun 17, 2021 |
| Familial adenomatous polyposis 1 | 1 | Nov 4, 2021 |
| Familial cancer of breast | 1 | Jun 17, 2021 |
| Familial cold autoinflammatory syndrome 2 | 1 | Nov 4, 2021 |
| Familial hypercholesterolemia 2 | 1 | Nov 4, 2021 |
| Familial mediterranean fever, autosomal dominant | 1 | Nov 4, 2021 |
| Generalized epilepsy with febrile seizures plus, type 10 | 1 | Nov 4, 2021 |
| Generalized epilepsy with febrile seizures plus, type 2 | 1 | Nov 4, 2021 |
| Genitourinary and/or brain malformation syndrome | 1 | Jun 17, 2021 |
| Glycogen storage disease type IXa1 | 1 | Nov 4, 2021 |
| HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS | 1 | Nov 4, 2021 |
| Helsmoortel-Van der Aa Syndrome | 1 | Nov 4, 2021 |
| Hemochromatosis type 1 | 1 | Nov 4, 2021 |
| Hereditary spastic paraplegia 10 | 1 | Nov 4, 2021 |
| Holt-Oram syndrome | 2 | Jul 5, 2021 |
| Hypocalcemia, autosomal dominant 1 | 1 | Nov 4, 2021 |
| Hypothyroidism, congenital, nongoitrous, 6 | 1 | Nov 4, 2021 |
| Ichthyosis vulgaris | 1 | Jun 17, 2021 |
| Infantile convulsions and choreoathetosis | 1 | Dec 3, 2021 |
| Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | 1 | Nov 4, 2021 |
| Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | 1 | Nov 4, 2021 |
| Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 1 | Jun 17, 2021 |
| Intellectual developmental disorder, autosomal recessive 67 | 1 | Dec 3, 2021 |
| Intellectual disability, autosomal dominant 45 | 2 | Nov 4, 2021 |
| Intellectual disability, autosomal dominant 48 | 1 | Jun 17, 2021 |
| Intellectual disability, autosomal dominant 51 | 1 | Dec 3, 2021 |
| Intellectual disability, autosomal dominant 52 | 1 | Dec 3, 2021 |
| Intellectual disability, autosomal dominant 9 | 1 | Nov 4, 2021 |
| Kabuki syndrome 2 | 1 | Dec 3, 2021 |
| LEOPARD syndrome 1 | 1 | Jun 17, 2021 |
| Larsen syndrome | 1 | Nov 4, 2021 |
| Lateral meningocele syndrome | 1 | Nov 4, 2021 |
| Leber congenital amaurosis 8 | 1 | Dec 3, 2021 |
| Leber optic atrophy | 1 | Nov 4, 2021 |
| Lethal congenital contracture syndrome 11 | 2 | Jul 5, 2021 |
| Limb-girdle muscular dystrophy, type 2A | 1 | Nov 4, 2021 |
| Limb-girdle muscular dystrophy, type 2L | 1 | Nov 4, 2021 |
| Lissencephaly due to TUBA1A mutation | 1 | Jun 17, 2021 |
| Loeys-Dietz syndrome 1 | 1 | Jun 17, 2021 |
| Long QT syndrome 3 | 1 | Dec 3, 2021 |
| Luscan-lumish syndrome | 1 | Jun 17, 2021 |
| Lymphatic malformation 3 | 1 | Jun 17, 2021 |
| Malignant tumor of prostate | 1 | Dec 3, 2021 |
| Marshall-Smith syndrome | 1 | Nov 4, 2021 |
| Mental retardation and distinctive facial features with or without cardiac defects | 1 | Nov 4, 2021 |
| Mental retardation, X-linked 102 | 1 | Nov 4, 2021 |
| Mental retardation, X-linked 104 | 1 | Dec 3, 2021 |
| Mental retardation, X-linked 99, syndromic, female-restricted | 1 | Oct 26, 2021 |
| Mental retardation, autosomal dominant 13 | 1 | Nov 4, 2021 |
| Mental retardation, autosomal dominant 19 | 1 | Jun 17, 2021 |
| Mental retardation, autosomal dominant 22 | 1 | Nov 4, 2021 |
| Mental retardation, autosomal dominant 35 | 1 | Jun 17, 2021 |
| Mental retardation, autosomal dominant 5 | 1 | Jun 17, 2021 |
| Mental retardation, autosomal recessive 51 | 1 | Nov 4, 2021 |
| Mental retardation, syndromic, Claes-Jensen type, X-linked | 2 | Nov 4, 2021 |
| Microcephalic osteodysplastic dysplasia, Saul-Wilson type | 1 | Dec 3, 2021 |
| Microtia, hearing impairment, and cleft palate | 1 | Nov 4, 2021 |
| Multiple congenital anomalies-neurodevelopmental syndrome, x-linked | 1 | Jun 17, 2021 |
| Multiple congenital exostosis | 1 | Jun 17, 2021 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 2 | Nov 4, 2021 |
| 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, jaw, eye, and digital syndrome | 1 | Nov 4, 2021 |
| Neuronopathy, distal hereditary motor, type 5A | 1 | Nov 4, 2021 |
| 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-like disorder with or without juvenile myelomonocytic leukemia | 1 | Jun 17, 2021 |
| Occult macular dystrophy | 1 | Nov 4, 2021 |
| Okur-chung neurodevelopmental syndrome | 1 | Nov 4, 2021 |
| Orofacial cleft 5 | 1 | Nov 4, 2021 |
| Pancreatic cancer 3 | 1 | Dec 3, 2021 |
| Parkinson disease 7 | 1 | Nov 4, 2021 |
| Parkinson disease, late-onset | 1 | Nov 4, 2021 |
| Pfeiffer syndrome | 1 | Nov 4, 2021 |
| Pigmented paravenous chorioretinal atrophy | 1 | Nov 4, 2021 |
| Pitt-Hopkins syndrome | 1 | Jun 17, 2021 |
| Prostate cancer, hereditary, 9 | 1 | Nov 4, 2021 |
| Radioulnar synostosis | 1 | Jun 17, 2021 |
| Rahman syndrome | 1 | Nov 4, 2021 |
| Retinitis pigmentosa 15 | 1 | Nov 4, 2021 |
| Rubinstein-Taybi syndrome 2 | 2 | Dec 3, 2021 |
| Seizures, benign familial infantile, 2 | 1 | Nov 4, 2021 |
| Snijders Blok-Campeau syndrome | 1 | Nov 4, 2021 |
| Spastic paraplegia 4, autosomal dominant | 1 | Jun 17, 2021 |
| Spastic paraplegia 57, autosomal recessive | 1 | Dec 3, 2021 |
| Spinocerebellar ataxia type 13 | 1 | Nov 4, 2021 |
| Spinocerebellar ataxia type 28 | 2 | Dec 3, 2021 |
| Spinocerebellar ataxia, autosomal recessive 10 | 1 | Jun 17, 2021 |
| Spinocerebellar ataxia, autosomal recessive 8 | 1 | Jun 17, 2021 |
| Spondyloperipheral dysplasia-short ulna syndrome | 1 | Nov 4, 2021 |
| Succinate-semialdehyde dehydrogenase deficiency | 1 | Nov 4, 2021 |
| Susceptibility to malaria | 1 | Jun 17, 2021 |
| Symphalangism, proximal, 1B | 1 | Nov 4, 2021 |
| Thrombocytopenia 5 | 1 | Dec 3, 2021 |
| Thyroid dyshormonogenesis 6 | 2 | Jul 5, 2021 |
| Tibial muscular dystrophy | 1 | Dec 3, 2021 |
| Timothy syndrome | 1 | Nov 4, 2021 |
| Tooth agenesis, selective, 4 | 1 | Nov 4, 2021 |
| Tremor, hereditary essential, 5 | 1 | Nov 4, 2021 |
| Usher syndrome, type 2A | 1 | Nov 4, 2021 |
| White-sutton syndrome | 1 | Jun 17, 2021 |
| Williams syndrome | 1 | Dec 3, 2021 |
| Witteveen-kolk syndrome | 2 | Nov 4, 2021 |
| Wolfram syndrome 1 | 1 | Jun 17, 2021 |
