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Results 1 - 8 of 8 for Muscular "dystrophy-dystroglycanopathy" congenital with brain eye anomalies "," type "a," 10
  1. Walker-Warburg syndrome 
    ... BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10; MDDGA10 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND ...
    https://medlineplus.gov/genetics/condition/walker-warburg-syndrome - Genetics
  2. Fukuyama congenital muscular dystrophy 
    ... Organization for Rare Disorders (NORD) ClinicalTrials.gov ... takes center stage. Nat Clin Pract Neurol. 2006 Apr;2(4):222-30. doi: 10.1038/ncpneuro0155. Citation on PubMed or Free article ...
    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. 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
  5. FKTN gene 
    ... a condition that causes skeletal muscle weakness and brain and eye abnormalities. This form of congenital muscular dystrophy is seen almost exclusively in Japan. Virtually ...
    https://medlineplus.gov/genetics/gene/fktn - Genetics
  6. 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
  7. 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
  8. 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