| Andersen Tawil syndrome | 1 | Oct 5, 2022 |
| Aortic valve disease 2 | 1 | Feb 24, 2022 |
| Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2 | Sep 7, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 6 | Sep 8, 2022 |
| Biotinidase deficiency | 1 | Sep 7, 2022 |
| Cardiomyopathy | 1 | Apr 25, 2023 |
| Central core myopathy | 2 | Sep 8, 2022 |
| Charcot-Marie-Tooth disease axonal type 2O | 1 | Sep 7, 2022 |
| Ciliary dyskinesia, primary, 40 | 1 | Oct 5, 2022 |
| Combined oxidative phosphorylation deficiency 46 | 1 | Jul 24, 2023 |
| Congenital contractural arachnodactyly | 1 | Apr 9, 2020 |
| Developmental and epileptic encephalopathy 99 | 3 | Sep 7, 2022 |
| Developmental and epileptic encephalopathy, 19 | 1 | Sep 7, 2022 |
| Developmental and epileptic encephalopathy, 32 | 1 | Sep 7, 2022 |
| Developmental and epileptic encephalopathy, 4 | 2 | Sep 7, 2022 |
| Developmental and epileptic encephalopathy, 41 | 1 | Sep 7, 2022 |
| Developmental and epileptic encephalopathy, 46 | 1 | Sep 7, 2022 |
| Developmental and epileptic encephalopathy, 66 | 1 | Sep 7, 2022 |
| Developmental and epileptic encephalopathy, 7 | 7 | Aug 19, 2022 |
| Developmental and epileptic encephalopathy, 70 | 1 | Sep 7, 2022 |
| Developmental and epileptic encephalopathy, 79 | 1 | Sep 7, 2022 |
| Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 1 | Sep 7, 2022 |
| Developmental and epileptic encephalopathy, 9 | 1 | Sep 7, 2022 |
| Duchenne muscular dystrophy | 2 | Sep 8, 2022 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 2 | Sep 8, 2022 |
| Episodic ataxia, type 9 | 3 | Sep 7, 2022 |
| FG syndrome 4 | 2 | Sep 7, 2022 |
| Generalized epilepsy-paroxysmal dyskinesia syndrome | 1 | Sep 7, 2022 |
| Glycogen storage disease, type IV | 2 | Sep 8, 2022 |
| Greig cephalopolysyndactyly syndrome | 1 | Oct 6, 2022 |
| Intellectual disability, X-linked, with or without seizures, arx-related | 2 | Sep 7, 2022 |
| Intellectual disability, autosomal dominant 16 | 1 | Feb 24, 2022 |
| Intellectual disability, autosomal dominant 42 | 1 | Oct 5, 2022 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | Oct 6, 2022 |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 2 | Sep 7, 2022 |
| Leukoencephalopathy, hereditary diffuse, with spheroids 2 | 1 | Sep 7, 2022 |
| Loeys-Dietz syndrome 1 | 1 | Oct 5, 2022 |
| Marfan syndrome | 2 | Oct 5, 2022 |
| Merosin deficient congenital muscular dystrophy | 2 | Sep 8, 2022 |
| Migraine, familial hemiplegic, 3 | 13 | Sep 7, 2022 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 2 | Sep 7, 2022 |
| Nemaline myopathy 2 | 1 | Sep 8, 2022 |
| Neurodevelopmental disorder with involuntary movements | 2 | Sep 7, 2022 |
| Osteogenesis imperfecta type III | 1 | Jan 17, 2020 |
| Peroxisome biogenesis disorder 5B | 2 | Sep 7, 2022 |
| Pyridoxal phosphate-responsive seizures | 2 | Sep 7, 2022 |
| Pyridoxine-dependent epilepsy | 8 | Sep 7, 2022 |
| Pyruvate dehydrogenase E1-alpha deficiency | 1 | Sep 7, 2022 |
| Radioulnar synostosis | 1 | Feb 24, 2022 |
| Rett syndrome, congenital variant | 2 | Sep 7, 2022 |
| Seizure | 1 | Mar 11, 2020 |
| Seizures, benign familial infantile, 5 | 4 | Sep 7, 2022 |
| Seizures, benign familial neonatal, 1 | 7 | Sep 7, 2022 |
| Severe X-linked myotubular myopathy | 1 | Sep 8, 2022 |
| Severe myoclonic epilepsy in infancy | 1 | Oct 5, 2022 |
| X-linked Opitz G/BBB syndrome | 1 | Oct 5, 2022 |
