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Metadata
ID DOID:0110297
Name autosomal recessive limb-girdle muscular dystrophy type 2K
Definition An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1).
https://www.ncbi.nlm.nih.gov/pubmed/15792865
Xrefs

ICD10CM:G71.0

OMIM:609308

ORDO:86812

Subsets

DO_rare_slim

Synonyms

LGMD2K [EXACT]

limb-girdle muscular dystrophy-intellectual disability syndrome [EXACT]

MDDGC1 [EXACT]

muscular dystrophy limb-girdle type 2K [EXACT]

muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1 [EXACT]

Parent Relationships

is_a autosomal recessive limb-girdle muscular dystrophy

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