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Results 1 - 5 of 5 for Muscular "dystrophy-dystroglycanopathy" congenital with brain eye anomalies "," type "A," 7
  1. Walker-Warburg syndrome 
    ... BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND ...
    https://medlineplus.gov/genetics/condition/walker-warburg-syndrome - Genetics
  2. 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
  3. LARGE1 gene 
    ... severe form of congenital muscular dystrophy known as congenital muscular dystrophy type 1D (MDC1D). This condition causes muscle weakness, brain abnormalities, and intellectual disability but does not affect the eyes. As in Walker-Warburg syndrome (described above), LARGE1 ...
    https://medlineplus.gov/genetics/gene/large1 - 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. 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