congenital muscular dystrophy-dystroglycanopathy type A11

Term ID

DOID:0111230

Synonyms

• congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11
• MDDGA11
• Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related

Definition

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3. https://www.ncbi.nlm.nih.gov/pubmed/23453667

References

• OMIM:615181

Ontology

Human Disease   ( DOID:0111230 )