muscular dystrophy-dystroglycanopathy type B6

Term ID

DOID:0110637

Synonyms

• congenital muscular dystrophy LARGE-related
• congenital muscular dystrophy type 1D
• MDC1D
• MDDGB6
• muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6
• muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6

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. (2)

References

• ICD10CM:G71.2
• MIM:608840
• ORDO:98894

Ontology

Human Disease   ( DOID:0110637 )