| Achondrogenesis type II | 3 | Mar 29, 2023 |
| Acromesomelic dysplasia 4 | 2 | Dec 12, 2025 |
| Adenylosuccinate lyase deficiency | 1 | Mar 3, 2025 |
| Asphyxiating thoracic dystrophy 3 | 1 | Nov 20, 2025 |
| Atelosteogenesis type II | 1 | Dec 11, 2025 |
| Autosomal recessive hypophosphatemic bone disease | 1 | Aug 16, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 1 | Oct 7, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2T | 1 | Apr 8, 2026 |
| Axial spondylometaphyseal dysplasia | 3 | Apr 8, 2026 |
| Bone fragility with contractures, arterial rupture, and deafness | 2 | Mar 3, 2025 |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 1 | Aug 26, 2022 |
| Charcot-Marie-Tooth disease axonal type 2K | 1 | Aug 12, 2021 |
| Charcot-Marie-Tooth disease axonal type 2Z | 3 | Jan 31, 2025 |
| Charcot-Marie-Tooth disease dominant intermediate D | 1 | Jul 29, 2024 |
| Charcot-Marie-Tooth disease type 1B | 2 | Feb 13, 2023 |
| Developmental and epileptic encephalopathy | 1 | Sep 6, 2022 |
| Developmental and epileptic encephalopathy, 54 | 2 | Feb 12, 2024 |
| Developmental delay and seizures with or without movement abnormalities | 1 | May 1, 2026 |
| Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | 6 | Jan 31, 2025 |
| Diastrophic dysplasia | 7 | Dec 11, 2025 |
| Dihydropteridine reductase deficiency | 1 | Jun 13, 2023 |
| Duchenne muscular dystrophy | 1 | Jul 6, 2023 |
| Dyskeratosis congenita, autosomal recessive 6 | 1 | Aug 9, 2024 |
| Ehlers-Danlos syndrome, cardiac valvular type | 1 | Jul 11, 2026 |
| Ellis-van Creveld syndrome | 1 | Nov 20, 2025 |
| Epilepsy, familial focal, with variable foci 1 | 4 | Jun 13, 2023 |
| Facioscapulohumeral muscular dystrophy 2 | 8 | Aug 31, 2026 |
| Familial adenomatous polyposis 1 | 1 | Jun 2, 2026 |
| Fanconi anemia complementation group N | 1 | Aug 25, 2021 |
| Glucose-6-phosphate transport defect | 1 | Sep 30, 2022 |
| Holt-Oram syndrome | 1 | Mar 16, 2026 |
| Hypercalcemia, infantile, 2 | 1 | Aug 10, 2021 |
| Intellectual disability, X-linked 102 | 1 | Oct 20, 2022 |
| Koolen-de Vries syndrome | 1 | Jun 13, 2024 |
| MEHMO syndrome | 1 | May 11, 2021 |
| Marfan syndrome | 3 | Jul 20, 2026 |
| Microcephalic primordial dwarfism due to ZNF335 deficiency | 1 | Feb 13, 2023 |
| Multiple epiphyseal dysplasia type 4 | 6 | Dec 11, 2025 |
| Muscular dystrophy | 1 | Apr 15, 2026 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 | 1 | Apr 8, 2026 |
| Nemaline myopathy 2 | 1 | Dec 23, 2025 |
| Neurofibromatosis, type 1 | 6 | Jul 24, 2026 |
| Neuronal ceroid lipofuscinosis 7 | 1 | Jul 16, 2026 |
| Obesity due to pro-opiomelanocortin deficiency | 1 | Sep 21, 2022 |
| Osteogenesis imperfecta type 6 | 1 | Apr 8, 2026 |
| Phelan-McDermid syndrome | 1 | Feb 15, 2023 |
| Proximal myopathy with extrapyramidal signs | 1 | Aug 2, 2022 |
| Robinow-Sorauf syndrome | 1 | Feb 12, 2024 |
| Saethre-Chotzen syndrome | 1 | Feb 12, 2024 |
| Spinal muscular atrophy with congenital bone fractures 2 | 2 | Aug 24, 2021 |
| Spondyloepiphyseal dysplasia congenita | 1 | Mar 9, 2023 |
| Steel syndrome | 2 | Nov 20, 2025 |
| Stickler syndrome type 1 | 6 | Mar 29, 2023 |
| TWIST1-related craniosynostosis | 1 | Feb 12, 2024 |
| Variegate porphyria | 1 | Sep 6, 2022 |
| X-linked chondrodysplasia punctata 1 | 1 | Dec 25, 2023 |
