| 3M syndrome 3 | 1 | Nov 6, 2024 |
| Adams-Oliver syndrome 5 | 1 | Nov 6, 2024 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 1 | Nov 20, 2024 |
| Alstrom syndrome | 2 | Nov 20, 2024 |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 1 | Oct 12, 2024 |
| Aortic dilatation | 1 | Jul 6, 2020 |
| Autism spectrum disorder due to AUTS2 deficiency | 1 | Nov 27, 2024 |
| Autism, susceptibility to, 17 | 1 | Nov 27, 2024 |
| Autism, susceptibility to, 5 | 1 | Nov 27, 2024 |
| Bartter disease type 2 | 1 | Nov 20, 2024 |
| Bryant-Li-Bhoj neurodevelopmental syndrome 2 | 1 | Nov 6, 2024 |
| CHARGE syndrome | 4 | Nov 4, 2024 |
| Capillary malformation-arteriovenous malformation 1 | 1 | Oct 14, 2024 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 1 | Oct 14, 2024 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 1 | Nov 7, 2024 |
| Cleidocranial dysostosis | 1 | Oct 11, 2024 |
| Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 1 | Nov 7, 2024 |
| Cornelia de Lange syndrome 4 | 1 | Nov 7, 2024 |
| Developmental and epileptic encephalopathy 94 | 1 | Nov 27, 2024 |
| Developmental and epileptic encephalopathy, 2 | 1 | Nov 27, 2024 |
| Developmental and epileptic encephalopathy, 54 | 1 | Oct 24, 2024 |
| Dilated cardiomyopathy 1G | 2 | Oct 3, 2024 |
| Dystonia 28, childhood-onset | 1 | Oct 24, 2024 |
| Episodic ataxia type 1 | 1 | Nov 20, 2024 |
| Exostoses, multiple, type 1 | 1 | Oct 14, 2024 |
| Exostoses, multiple, type 2 | 1 | Nov 7, 2024 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 1 | Nov 6, 2024 |
| Finnish congenital nephrotic syndrome | 1 | Nov 20, 2024 |
| Fliedner-Zweier syndrome | 1 | Oct 12, 2024 |
| Hypertrophic cardiomyopathy 4 | 2 | Oct 23, 2024 |
| Intellectual disability, X-linked 72 | 1 | Nov 27, 2024 |
| Intellectual disability, autosomal dominant 6 | 2 | Nov 27, 2024 |
| Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | 1 | Nov 20, 2024 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 1 | Nov 27, 2024 |
| KBG syndrome | 1 | Nov 27, 2024 |
| Kabuki syndrome 1 | 1 | Nov 20, 2024 |
| Kleefstra syndrome 1 | 1 | Oct 14, 2024 |
| Lamb-Shaffer syndrome | 1 | Nov 27, 2024 |
| MED12-related neurodevelopmental delay | 1 | Nov 6, 2024 |
| Marfan syndrome | 1 | Nov 6, 2024 |
| Multiple congenital anomalies-neurodevelopmental syndrome, X-linked | 1 | Nov 7, 2024 |
| Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 1 | Nov 20, 2024 |
| Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | 1 | Nov 20, 2024 |
| Neurodevelopmental disorder with or without autism or seizures | 1 | Nov 6, 2024 |
| Neurodevelopmental disorder with speech impairment and dysmorphic facies | 1 | Nov 20, 2024 |
| Neurofibromatosis, type 1 | 1 | Nov 20, 2024 |
| Osteogenesis imperfecta type I | 1 | Oct 11, 2024 |
| PSMC3-Related Neurodevelopmental Delay | 1 | Oct 12, 2024 |
| Pes planus | 1 | Jul 6, 2020 |
| Pitt-Hopkins syndrome | 1 | Oct 14, 2024 |
| Polycystic kidney disease 2 | 1 | Nov 7, 2024 |
| Polycystic kidney disease, adult type | 2 | Nov 7, 2024 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 1 | Nov 27, 2024 |
| SCN2A-related disorder | 1 | Nov 27, 2024 |
| SCN8A-related neurodevelopmental delay | 1 | Nov 20, 2024 |
| STXBP3-related disorders | 1 | Nov 20, 2024 |
| Scoliosis | 1 | Jul 6, 2020 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 1 | Nov 27, 2024 |
| Short QT syndrome 7 | 1 | Nov 7, 2024 |
| Sifrim-Hitz-Weiss syndrome | 1 | Nov 6, 2024 |
| Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | 1 | Nov 27, 2024 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Nov 27, 2024 |
| TCF12-related craniosynostosis | 1 | Oct 24, 2024 |
| Warburg micro syndrome 1 | 2 | Nov 20, 2024 |
| Wiedemann-Steiner syndrome | 3 | Nov 27, 2024 |
| Zimmermann-laband syndrome 3 | 1 | Apr 9, 2021 |
