congenital muscular dystrophy-dystroglycanopathy type A2

Term ID

DOID:0111240

Synonyms

• congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2
• MDDGA2
• Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related

Definition

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3. https://www.ncbi.nlm.nih.gov/pubmed/15894594

References

• OMIM:613150

Ontology

Human Disease   ( DOID:0111240 )