| Metadata | |
|---|---|
| ID | DOID:0061133 |
| Name | autosomal recessive limb-girdle muscular dystrophy type 27 |
| Definition | An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness primarily affecting the lower limbs and resulting in walking difficulty or loss of ambulation that has_material_basis_in homozygous or compound heterozygous mutation in the JAG2 gene on chromosome 14q32. https://pubmed.ncbi.nlm.nih.gov/33861953/ |
| Xrefs | |
| SKOS |
exactMatch MIM:619566 |
| Synonyms |
LGMDR27 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |