muscular dystrophy-dystroglycanopathy type B5

Term ID

DOID:0110635

Synonyms

• congenital muscular dystrophy 1C
• FKRP-related congenital muscular dystrophy
• MDC1C
• MDDGB5
• muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5
• muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5

Definition

A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3. (2)

References

• ICD10CM:G71.2
• OMIM:606612
• ORDO:52428

Ontology

Human Disease   ( DOID:0110635 )