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Results 21 - 30 of 520 for Congenital defects
  1. FKRP gene 
    ... Walker-Warburg syndrome causes skeletal muscle weakness and abnormalities of the brain and eyes. Because of the ... this problem with neuronal migration causes a brain abnormality called cobblestone lissencephaly, in which the surface of ...
    https://medlineplus.gov/genetics/gene/fkrp - Genetics
  2. LMNA gene 
    ... unable to store and use fats properly. These abnormalities of adipose tissue alter hormone production and affect ... of signs and symptoms, which can include bone abnormalities; mottled or patchy skin coloring; and loss of ...
    https://medlineplus.gov/genetics/gene/lmna - Genetics
  3. TYROBP gene 
    ... TREM2 signaling in osteoclasts and microglia. The bone abnormalities seen in people with this disorder are probably ... signaling through the TYROBP-TREM2 complex causes widespread abnormalities of microglia. Researchers are working to determine how ...
    https://medlineplus.gov/genetics/gene/tyrobp - Genetics
  4. SMAD4 gene 
    ... telangiectasia, a disorder characterized by certain blood vessel abnormalities. In particular, some smaller arteries (arterioles) abnormally flow ... rather than into other vessels called capillaries. These abnormalities are called arteriovenous malformations. When they occur in ...
    https://medlineplus.gov/genetics/gene/smad4 - Genetics
  5. TRPS1 gene 
    ... bone and joint malformations; distinctive facial features; and abnormalities of the skin, hair, teeth, sweat glands, and ... abnormal bones in the fingers and toes, joint abnormalities, distinctive facial features, and other signs and symptoms ...
    https://medlineplus.gov/genetics/gene/trps1 - Genetics
  6. ERCC3 gene 
    ... xeroderma pigmentosum is sometimes associated with progressive neurological abnormalities. In affected individuals with the Phe99Ser variant, neurological ...
    https://medlineplus.gov/genetics/gene/ercc3 - Genetics
  7. SLC4A1 gene 
    ... people with this condition also have blood cell abnormalities, such as hereditary spherocytosis, hereditary stomatocytosis, or Southeast Asian ovalocytosis (described below). The blood cell abnormalities can lead to hemolytic anemia, in which the ...
    https://medlineplus.gov/genetics/gene/slc4a1 - Genetics
  8. AKT3 gene 
    ... large brain and head size (megalencephaly) and other abnormalities of the brain's structure.Each of the ... a brain malformation called isolated hemimegalencephaly. This brain abnormality is an enlargement of one of the two ...
    https://medlineplus.gov/genetics/gene/akt3 - Genetics
  9. PIK3R2 gene 
    ... large brain and head size (megalencephaly) and other abnormalities of the brain's structure. Some affected individuals ... gene have been found to cause a brain abnormality called bilateral perisylvian polymicrogyria (BPP). The surface of ...
    https://medlineplus.gov/genetics/gene/pik3r2 - Genetics
  10. POMT2 gene 
    ... dystrophies. Walker-Warburg syndrome causes muscle weakness and abnormalities of the brain and eyes. Because of the ... this problem with neuronal migration causes a brain abnormality called cobblestone lissencephaly, in which the surface of ...
    https://medlineplus.gov/genetics/gene/pomt2 - Genetics
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