Emery-Dreifuss Muscular Dystrophy 1, X-linked
An X-linked recessive mode(s) within the Neuromuscular disorders category
Candidate Gene Information
An X-linked recessive 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 | EMD/2010 | emerin | Xq28 | ChrX, NC_000023.11 (154379295..154381523) |
2229 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities