congenital muscular dystrophy-dystroglycanopathy type A8

Term ID

DOID:0111231

Synonyms

• congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8
• MDDGA8
• Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related

Definition

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1. https://www.ncbi.nlm.nih.gov/pubmed/22958903

References

• OMIM:614830

Ontology

Human Disease   ( DOID:0111231 )