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Metadata
ID DOID:0110637
Name muscular dystrophy-dystroglycanopathy type B6
Definition A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.
https://www.ncbi.nlm.nih.gov/pubmed/12966029, https://www.ncbi.nlm.nih.gov/pubmed/19067344
Xrefs

ICD10CM:G71.2

OMIM:608840

ORDO:98894

Subsets

DO_rare_slim

Synonyms

congenital muscular dystrophy LARGE-related [EXACT]

congenital muscular dystrophy type 1D [EXACT]

MDC1D [EXACT]

MDDGB6 [EXACT]

muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 [EXACT]

muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 [EXACT]

Parent Relationships

is_a muscular dystrophy-dystroglycanopathy type B

is_a autosomal recessive disease

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