| Metadata | |
|---|---|
| ID | DOID:0061134 |
| Name | autosomal recessive limb-girdle muscular dystrophy type 29 |
| Definition | An autosomal recessive limb-girdle muscular dystrophy characterized by onset of muscle weakness predominantly affecting the proximal lower limbs, although upper limb involvement also occurs that has_material_basis_in homozygous or compound heterozygous mutation in the SNUPN gene on chromosome 15q24. https://pubmed.ncbi.nlm.nih.gov/38413582/ |
| Xrefs | |
| SKOS |
exactMatch MIM:620793 |
| Synonyms |
LGMDR29 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |