congenital muscular dystrophy-dystroglycanopathy type A5

Term ID

DOID:0111241

Synonyms

• congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
• MDDGA5
• Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related

Definition

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32. https://www.ncbi.nlm.nih.gov/pubmed/15121789

References

• OMIM:613153

Ontology

Human Disease   ( DOID:0111241 )