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Results 101 - 110 of 277 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. About Neural Tube Defects (NTDs) From the National Institutes of Health (Eunice Kennedy Shriver National Institute of Child Health and Human Development)  
    Neural Tube Defects/Start Here ... Neural Tube Defects ... Eunice Kennedy Shriver National Institute of Child Health and Human Development ... From the National Institutes ...
    https://www.nichd.nih.gov/health/topics/ntds/conditioninfo - External Health Links
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. Learning about Charcot-Marie-Tooth Disease From the National Institutes of Health (National Human Genome Research Institute)  
    Charcot-Marie-Tooth Disease/Genetics ... Charcot-Marie-Tooth Disease ... National Human Genome Research Institute ... From the National Institutes of Health ... Charcot-Marie- ...
    https://www.genome.gov/Genetic-Disorders/Charcot-Marie-Tooth-Disease - External Health Links
  9. Doppler ultrasonography of an extremity (image) 
    Images ... Doppler ultrasonography examines the blood flow in the major arteries and veins in the arms and legs with the use of ultrasound ( ...
    https://medlineplus.gov/ency/imagepages/9279.htm - Medical Encyclopedia
  10. CRPPA gene 
    ... this problem with neuronal migration causes a brain abnormality called cobblestone lissencephaly, ... Condition ...
    https://medlineplus.gov/genetics/gene/crppa - Genetics
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