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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

MIM:620793

SKOS

exactMatch MIM:620793

Synonyms

LGMDR29 [EXACT]

Parent Relationships

is_a autosomal recessive limb-girdle muscular dystrophy

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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