congenital muscular dystrophy-dystroglycanopathy type A3

Term ID

DOID:0111236

Synonyms

• congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3
• MDDGA3
• Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related

Definition

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1. https://www.ncbi.nlm.nih.gov/pubmed/11709191

References

• OMIM:253280

Ontology

Human Disease   ( DOID:0111236 )