Metadata | |
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ID | DOID:0070249 |
Name | autosomal dominant Emery-Dreifuss muscular dystrophy 4 |
Definition | An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2. https://www.ncbi.nlm.nih.gov/pubmed/17761684 |
Xrefs | |
Synonyms |
EDMD4 [EXACT] Emery-Dreifuss muscular dystrophy 4 with variable features [EXACT] Emery-Dreifuss muscular dystrophy 4, autosomal dominant [EXACT] |
Parent Relationships |