Version: 8.0.0
Date: Tue Jan 28 2025
congenital muscular dystrophy-dystroglycanopathy type A12
DOID:0111235
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

congenital muscular dystrophy-dystroglycanopathy type A12

Definition
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21.
Synonyms
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12
  • MDDGA12
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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