Version: 8.0.0
Date: Tue Jan 28 2025
congenital muscular dystrophy-dystroglycanopathy type A2
DOID:0111240
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

congenital muscular dystrophy-dystroglycanopathy type A2

Definition
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3.
Synonyms
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2
  • MDDGA2
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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