congenital muscular dystrophy-dystroglycanopathy type A

Term ID

DOID:0111229

Synonyms

congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
klissencephaly type 2 with muscular and ocular involvement
MDDGA

Definition

A congenital muscular dystrophy-dystroglycanopathy 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

References

MIM:PS236670
ORDO:352687

Ontology

Human Disease ( DOID:0111229 )

Relationships

is a type of: autosomal recessive disease muscular dystrophy-dystroglycanopathy

autosomal recessive disease muscular dystrophy-dystroglycanopathy Show first 5 Terms
has subtype: congenital muscular dystrophy-dystroglycanopathy A7 congenital muscular dystrophy-dystroglycanopathy A14 congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy-dystroglycanopathy type A2 congenital muscular dystrophy-dystroglycanopathy type A3 ... Show All 14 Terms

congenital muscular dystrophy-dystroglycanopathy A7 congenital muscular dystrophy-dystroglycanopathy A14 congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy-dystroglycanopathy type A2 congenital muscular dystrophy-dystroglycanopathy type A3 congenital muscular dystrophy-dystroglycanopathy type A5 congenital muscular dystrophy-dystroglycanopathy type A6 congenital muscular dystrophy-dystroglycanopathy type A8 congenital muscular dystrophy-dystroglycanopathy type A9 congenital muscular dystrophy-dystroglycanopathy type A10 congenital muscular dystrophy-dystroglycanopathy type A11 congenital muscular dystrophy-dystroglycanopathy type A12 congenital muscular dystrophy-dystroglycanopathy type A13 Fukuyama congenital muscular dystrophy Show first 5 Terms

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Alliance (1)

Genes Involved

Zebrafish Models