| Metadata | |
|---|---|
| ID | DOID:0060917 |
| Name | facioscapulohumeral muscular dystrophy 3 |
| Definition | A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. https://pubmed.ncbi.nlm.nih.gov/32467133/ |
| Xrefs | |
| Synonyms |
facioscapulohumeral muscular dystrophy type 3 [EXACT] FSHD3 [EXACT] |
| Parent Relationships |
is_a facioscapulohumeral muscular dystrophy is_a digenic disease |