| 15q11q13 microduplication syndrome | 1 | Aug 8, 2023 |
| 4p16.3 microduplication syndrome | 1 | Aug 8, 2023 |
| 6q terminal deletion syndrome | 1 | Aug 8, 2023 |
| 7q11.23 microduplication syndrome | 3 | Aug 13, 2023 |
| ACTA1 gene related myopathy | 1 | Feb 11, 2019 |
| Actin accumulation myopathy | 1 | Feb 11, 2019 |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 1 | Dec 4, 2023 |
| Ataxia _ Neurologic (child onset) | 1 | Feb 11, 2019 |
| Ataxia-telangiectasia syndrome | 2 | Nov 27, 2019 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 2 | Feb 14, 2019 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 4 | Feb 28, 2019 |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 2 | Feb 26, 2019 |
| Beckwith-Wiedemann syndrome due to 11p15 microdeletion | 1 | Aug 8, 2023 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 1 | Aug 6, 2023 |
| CHARGE association | 1 | Aug 6, 2023 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 1 | Aug 6, 2023 |
| Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | 1 | Mar 3, 2024 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 2 | Feb 11, 2019 |
| Charcot-Marie-Tooth disease dominant intermediate E | 1 | Feb 11, 2019 |
| Charcot-Marie-Tooth disease type 1E | 1 | Feb 11, 2019 |
| Charcot-Marie-Tooth disease type 2A2 | 1 | Feb 11, 2019 |
| Charlevoix-Saguenay spastic ataxia | 2 | Feb 14, 2019 |
| Cholestanol storage disease | 1 | Feb 11, 2019 |
| Chromosome 15q11.2 deletion syndrome | 2 | Aug 8, 2023 |
| Chromosome 15q13.3 microdeletion syndrome | 1 | Aug 8, 2023 |
| Chromosome 15q24 deletion syndrome | 1 | Aug 8, 2023 |
| Chromosome 17q12 deletion syndrome | 1 | Aug 8, 2023 |
| Chromosome 1p36 deletion syndrome | 1 | Aug 8, 2023 |
| Chromosome 1q21.1 deletion syndrome | 1 | Aug 8, 2023 |
| Chromosome 22q11.2 microduplication syndrome | 1 | Aug 8, 2023 |
| Clark-Baraitser syndrome | 1 | Mar 3, 2024 |
| Cohen syndrome | 1 | Aug 6, 2023 |
| Congenital multicore myopathy with external ophthalmoplegia | 2 | Feb 13, 2019 |
| Congenital muscular dystrophy due to LMNA mutation | 1 | Feb 11, 2019 |
| Congenital titinopathy | 2 | Feb 28, 2019 |
| Cowden syndrome 1 | 2 | Aug 6, 2023 |
| Deletion of long arm of chromosome 18 | 1 | Aug 8, 2023 |
| Desmin-related myofibrillar myopathy | 2 | Feb 11, 2019 |
| Developmental and epileptic encephalopathy, 69 | 1 | Aug 6, 2023 |
| Distal 10q deletion syndrome | 3 | Dec 15, 2023 |
| Distal trisomy 10q | 2 | Dec 15, 2023 |
| Distal trisomy 8q | 2 | Dec 15, 2023 |
| Duchenne muscular dystrophy | 2 | Feb 21, 2019 |
| Early-onset myopathy with fatal cardiomyopathy | 2 | Feb 28, 2019 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 1 | Feb 11, 2019 |
| Episodic ataxia type 2 | 2 | Feb 11, 2019 |
| GNE myopathy | 3 | Mar 7, 2019 |
| Hereditary spastic paraplegia 11 | 2 | Feb 28, 2019 |
| Hereditary spastic paraplegia 17 | 1 | Feb 11, 2019 |
| Hereditary spastic paraplegia 31 | 1 | Feb 8, 2019 |
| Hereditary spastic paraplegia 4 | 2 | Feb 11, 2019 |
| Hereditary spastic paraplegia 45 | 2 | Mar 3, 2024 |
| Heyn-Sproul-Jackson syndrome | 1 | Mar 29, 2023 |
| Hypertrichotic osteochondrodysplasia Cantu type | 1 | Aug 6, 2023 |
| Intellectual developmental disorder with autism and macrocephaly | 1 | Aug 6, 2023 |
| Intellectual disability, autosomal dominant 39 | 1 | Dec 15, 2023 |
| Intellectual disability, autosomal dominant 6 | 1 | Mar 8, 2024 |
| Joubert syndrome 17 | 2 | Mar 3, 2024 |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 2 | Jun 25, 2019 |
| Miyoshi muscular dystrophy 3 | 2 | Feb 26, 2019 |
| Myosin storage myopathy | 1 | Feb 8, 2019 |
| Neuronopathy, distal hereditary motor, type 5A | 1 | Feb 11, 2019 |
| Non-progressive congenital cerebellar ataxia | 1 | Feb 11, 2019 |
| Radio-Tartaglia syndrome | 1 | Mar 3, 2024 |
| Rahman syndrome | 1 | Mar 3, 2024 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 2 | Aug 6, 2023 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 1 | Aug 6, 2023 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 2 | Mar 8, 2024 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 | Jan 17, 2023 |
| Sjögren-Larsson syndrome | 2 | Feb 14, 2019 |
| Snijders Blok-Campeau syndrome | 1 | Aug 6, 2023 |
| Sotos syndrome | 2 | Aug 6, 2023 |
| Tatton-Brown-Rahman overgrowth syndrome | 2 | Aug 11, 2023 |
| Vanishing white matter disease | 2 | Feb 6, 2019 |
| Vertebral, cardiac, tracheoesophageal, renal, and limb defects | 1 | Oct 4, 2023 |
| X-linked Emery-Dreifuss muscular dystrophy | 1 | Feb 11, 2019 |
