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Results 21 - 30 of 52 for Abnormality of limbs
  1. FKTN gene 
    ... development of the brain. This causes a brain abnormality called cobblestone ... muscular dystrophy More About This Health Condition ...
    https://medlineplus.gov/genetics/gene/fktn - Genetics
  2. CRPPA gene 
    ... this problem with neuronal migration causes a brain abnormality called cobblestone lissencephaly, ... Condition ...
    https://medlineplus.gov/genetics/gene/crppa - Genetics
  3. POMT2 gene 
    ... this problem with neuronal migration causes a brain abnormality called cobblestone ... dystrophy More About This Health Condition ...
    https://medlineplus.gov/genetics/gene/pomt2 - Genetics
  4. POMT1 gene 
    ... this problem with neuronal migration causes a brain abnormality called cobblestone ... dystrophy More About This Health Condition ...
    https://medlineplus.gov/genetics/gene/pomt1 - Genetics
  5. KIF7 gene 
    ... parts of the body, including the brain and limbs. At least 20 mutations in the KIF7 gene have been identified in people with acrocallosal syndrome. This rare condition is characterized by certain brain abnormalities, the presence of extra fingers and toes (polydactyly), ...
    https://medlineplus.gov/genetics/gene/kif7 - Genetics
  6. TRIP11 gene 
    ... of bone development is characterized by extremely short limbs, a narrow chest, ... abnormalities, and infants with achondrogenesis usually die before or ...
    https://medlineplus.gov/genetics/gene/trip11 - Genetics
  7. OFD1 gene 
    ... parts of the body, including the brain, face, limbs, and kidneys.The OFD1 protein is located at ... syndrome. This disorder is characterized by particular brain abnormalities, weak muscle tone (hypotonia), delayed development, unusual eye ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  8. ATL1 gene 
    ... to other neurons and muscles in the lower extremities. This impaired nerve function leads ... by nerve abnormalities in the legs and feet (peripheral neuropathy). Many ...
    https://medlineplus.gov/genetics/gene/atl1 - Genetics
  9. DOCK6 gene 
    ... regulate these GTPases specifically during development of the limbs, skull, and heart. ... feet. Neurological abnormalities, such as brain or eye malformations and intellectual ...
    https://medlineplus.gov/genetics/gene/dock6 - Genetics
  10. ANO5 gene 
    ... ANO5 gene have been identified in people with limb-girdle muscular dystrophy type 2L. Limb-girdle muscular dystrophy is a group of related ... The ANO5 gene mutations identified in people with limb-girdle muscular dystrophy type 2L change single amino ...
    https://medlineplus.gov/genetics/gene/ano5 - Genetics
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