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Results 1 - 7 of 7 for Muscular "dystrophy-dystroglycanopathy" congenital with brain eye anomalies "," type "A," 3
  1. Fukuyama congenital muscular dystrophy 
    ... Organization for Rare Disorders (NORD) ClinicalTrials.gov ... K. Fukuyama Congenital Muscular Dystrophy. 2006 Jan 26 [updated 2019 Jul 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
    https://medlineplus.gov/.../fukuyama-congenital-muscular-dystrophy - Genetics
  2. Walker-Warburg syndrome 
    ... HARD syndrome Hydrocephalus, agyria, and retinal dysplasia MDDGA Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A Muscular dystrophy-dystroglycanopathy [with brain and eye ...
    https://medlineplus.gov/genetics/condition/walker-warburg-syndrome - 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 
    ... a condition that causes skeletal muscle weakness and brain and eye ... an insertion of about 3,000 extra DNA building blocks (3 kilobases [kb]) ...
    https://medlineplus.gov/genetics/gene/fktn - Genetics
  5. 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
  6. 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
  7. 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