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Results 1 - 6 of 6 for Muscular "dystrophy-dystroglycanopathy" congenital with brain eye anomalies "," type "A," 4
  1. Fukuyama congenital muscular dystrophy 
    ... type FCMD FKTN-related congenital muscular dystrophy MDDGA4 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Genetic Testing Registry: Muscular dystrophy-dystroglycanopathy (congenital with ...
    https://medlineplus.gov/.../fukuyama-congenital-muscular-dystrophy - Genetics
  2. Walker-Warburg syndrome 
    ... BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND ...
    https://medlineplus.gov/genetics/condition/walker-warburg-syndrome - Genetics
  3. FKTN gene 
    ... fukutin protein, which leads to the severe muscle, eye, and brain problems that are characteristic of ... type B4 (MDDGB4). People with MDDGB4 typically have muscle ...
    https://medlineplus.gov/genetics/gene/fktn - Genetics
  4. POMT2 gene 
    ... form of a group of disorders known as congenital muscular dystrophies. Walker-Warburg syndrome causes muscle weakness and abnormalities of the brain and eyes. Because of the severity of the problems caused ...
    https://medlineplus.gov/genetics/gene/pomt2 - Genetics
  5. POMT1 gene 
    ... usually survive into childhood or adolescence. POMT1-related congenital muscular dystrophy causes muscle weakness, brain abnormalities, and intellectual disability, but usually does not affect the eyes.POMT1 gene mutations that cause these conditions result ...
    https://medlineplus.gov/genetics/gene/pomt1 - Genetics
  6. CRPPA gene 
    ... form of a group of disorders known as congenital muscular dystrophies. Walker-Warburg syndrome causes skeletal muscle weakness and abnormalities of the brain and eyes. Because of the severity of the problems caused ...
    https://medlineplus.gov/genetics/gene/crppa - Genetics