Version: 8.0.0
Date: Tue Jan 28 2025
muscular dystrophy-dystroglycanopathy type C8
DOID:0112382
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

muscular dystrophy-dystroglycanopathy type C8

Definition
A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1.
Synonyms
  • autosomal recessive limb-girdle muscular dystrophy 24
  • LGMDR24
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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