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Results 1 - 6 of 6 for Muscular "dystrophy-dystroglycanopathy" congenital with brain eye anomalies "," type "a," 8
  1. Walker-Warburg syndrome 
    ... BRAIN AND EYE ANOMALIES), TYPE A, 10; MDDGA10 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8; MDDGA8 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND ...
    https://medlineplus.gov/genetics/condition/walker-warburg-syndrome - Genetics
  2. 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 ( ...
    https://medlineplus.gov/.../fukuyama-congenital-muscular-dystrophy - Genetics
  3. FKRP gene 
    ... found in a small number of people with congenital muscular dystrophy type 1C (MDC1C), which causes muscle weakness, brain abnormalities, and intellectual disability but usually does not affect the eyes. Rarely, mutations in the FKRP gene are associated ...
    https://medlineplus.gov/genetics/gene/fkrp - Genetics
  4. 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
  5. POMT2 gene 
    ... nerve cells (neurons) during early development. ... and abnormalities of the brain and eyes. Because of the severity of the problems caused ...
    https://medlineplus.gov/genetics/gene/pomt2 - 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