FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital muscular dystrophy-dystroglycanopathy type A ID (Ontology) DOID:0111229 (Human Disease)
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.
Also Known As "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies" ; "klissencephaly type 2 with muscular and ocular involvement" ; "MDDGA"
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congenital muscular dystrophy
 |__muscular dystrophy-dystroglycanopathy__
autosomal genetic disease                  |
 |__autosomal recessive disease____________|
                                           congenital muscular dystrophy-dystroglycanopathy type A  16 rec.
                                            |__congenital muscular dystrophy-dystroglycanopathy type A1 5 rec.
                                            |__congenital muscular dystrophy-dystroglycanopathy type A2 2 rec.
                                            |__congenital muscular dystrophy-dystroglycanopathy type A3 1 rec.
                                            |__congenital muscular dystrophy-dystroglycanopathy type A5 1 rec.
                                            |__congenital muscular dystrophy-dystroglycanopathy type A6 3 rec.
                                            |__congenital muscular dystrophy-dystroglycanopathy type A7
                                            |__congenital muscular dystrophy-dystroglycanopathy type A8
                                            |__congenital muscular dystrophy-dystroglycanopathy type A9 2 rec.
                                            |__congenital muscular dystrophy-dystroglycanopathy type A10
                                            |__congenital muscular dystrophy-dystroglycanopathy type A11 1 rec.
                                            |__congenital muscular dystrophy-dystroglycanopathy type A12
                                            |__congenital muscular dystrophy-dystroglycanopathy type A13 4 rec.
                                            |__congenital muscular dystrophy-dystroglycanopathy type A14 1 rec.
                                            |__Fukuyama congenital muscular dystrophy
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Is a autosomal recessive disease
muscular dystrophy-dystroglycanopathy
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Synonyms
  • "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies" EXACT
    "klissencephaly type 2 with muscular and ocular involvement" EXACT
    "MDDGA" EXACT OMO:0003012
Secondary IDs
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MIM:PS236670
ORDO:352687