Duchenne Muscular Dystrophy(Severe dystrophinopathy, Duchenne type) Explore Disorder's Alias
An X-linked dominant mode(s) within the Neuromuscular disorders category
Candidate Gene Information
An X-linked dominant mode(s) within the Neuromuscular disorders category
Reported Pathogenic variants
S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
1 | DMD/1756 | dystrophin | Xp21.1 | ChrX, NC_000023.11 (31119222..33339388, complement) |
2220167 nt | 89 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |