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Metadata
ID DOID:0111229
Name congenital muscular dystrophy-dystroglycanopathy type A
Definition A congenital muscular dystrophy-dystroglycanopathy type A characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing.
https://www.ncbi.nlm.nih.gov/pubmed/23453667
Xrefs

OMIM:PS236670

ORDO:352687

Synonyms

congenital muscular alpha-dystroglycanopathy with brain and eye anomalies [EXACT]

klissencephaly type 2 with muscular and ocular involvement [EXACT]

MDDGA [EXACT]

Parent Relationships

is_a muscular dystrophy-dystroglycanopathy

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