| Metadata | |
|---|---|
| ID | DOID:0060918 |
| Name | facioscapulohumeral muscular dystrophy 4 |
| Definition | A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. https://pubmed.ncbi.nlm.nih.gov/27153398/ |
| Xrefs | |
| Synonyms |
facioscapulohumeral muscular dystrophy type 4 [EXACT] FSHD4 [EXACT] |
| Parent Relationships |
is_a facioscapulohumeral muscular dystrophy is_a digenic disease |
| Subclass Logical Relationships |
has material basis in some digenic inheritance |