Version: 8.0.0
Date: Tue Jan 28 2025
muscular dystrophy-dystroglycanopathy type C12
DOID:0112381
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

muscular dystrophy-dystroglycanopathy type C12

Definition
A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p11.21.
Synonyms
  • LGMD due to POMK deficiency
  • Limb-girdle muscular dystrophy due to POMK deficiency
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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