Version: 8.0.0
Date: Tue Jan 28 2025
muscular dystrophy-dystroglycanopathy type B5
DOID:0110635
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

muscular dystrophy-dystroglycanopathy type B5

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.
Synonyms
  • congenital muscular dystrophy 1C
  • FKRP-related congenital muscular dystrophy
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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