Metadata | |
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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 |