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Results 1 - 3 of 3 for Congenital muscular "alpha-dystroglycanopathy" with brain eye anomalies
  1. Walker-Warburg syndrome 
    ... agyria, and retinal dysplasia MDDGA Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A Muscular dystrophy-dystroglycanopathy [with brain and eye anomalies], type ...
    https://medlineplus.gov/genetics/condition/walker-warburg-syndrome - Genetics
  2. Fukuyama congenital muscular dystrophy 
    ... Genetic Testing Registry: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Congenital muscular dystrophy, Fukuyama type National Organization for Rare Disorders ( ...
    https://medlineplus.gov/.../fukuyama-congenital-muscular-dystrophy - Genetics
  3. FKTN gene 
    ... cause Walker-Warburg syndrome, a severe form of congenital muscular dystrophy that affects the development of the eyes, brain, and skeletal muscles. The eye and brain abnormalities seen in those with Walker-Warburg syndrome are ...
    https://medlineplus.gov/genetics/gene/fktn - Genetics