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Results 71 - 80 of 181 for Abnormality of limbs
  1. SLC26A2 gene 
    ... of bone development is characterized by extremely short limbs, short fingers and toes, a narrow chest, and a prominent, rounded abdomen. Serious health problems result from these abnormalities, and infants with achondrogenesis usually die before or ...
    https://medlineplus.gov/genetics/gene/slc26a2 - Genetics
  2. DHODH gene 
    ... dihydroorotate dehydrogenase appears to be active in the limb buds during early development, it is not clear exactly how variants in the DHODH gene cause the specific bone abnormalities seen in people with Miller syndrome. More About ...
    https://medlineplus.gov/genetics/gene/dhodh - Genetics
  3. TUBB3 gene 
    ... of neurites within the brain leads to brain abnormalities that underlie ... the limbs (peripheral neuropathy) that begins in childhood or adulthood. ...
    https://medlineplus.gov/genetics/gene/tubb3 - Genetics
  4. 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
  5. Miller syndrome 
    ... dihydroorotate dehydrogenase appears to be active in the limb buds during the early stages of development, it is not clear how variants in the DHODH gene cause the specific bone abnormalities seen in people with Miller syndrome. DHODH This ...
    https://medlineplus.gov/genetics/condition/miller-syndrome - Genetics
  6. L1 syndrome 
    ... spasticity) and the development of paralysis of the limbs (paraplegia). Affected individuals also have mild to moderate intellectual disability. People with spastic paraplegia type 1 do not usually have major abnormalities in structures of the brain.X-linked complicated ...
    https://medlineplus.gov/genetics/condition/l1-syndrome - Genetics
  7. CRPPA gene 
    ... this problem with neuronal migration causes a brain abnormality called cobblestone lissencephaly, ... Condition ...
    https://medlineplus.gov/genetics/gene/crppa - Genetics
  8. 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
  9. 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
  10. Char syndrome 
    ... affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities.Most people with Char syndrome have a characteristic ...
    https://medlineplus.gov/genetics/condition/char-syndrome - Genetics
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