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Metadata
ID	DOID:0112379
Name	muscular dystrophy-dystroglycanopathy type B4
Definition	A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2. https://pubmed.ncbi.nlm.nih.gov/17878207/
Xrefs	MIM:613152
Synonyms	congenital muscular dystrophy FKTN-related [EXACT] MDDGB4 [EXACT]
Parent Relationships	is_a muscular dystrophy-dystroglycanopathy type B is_a autosomal recessive disease