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Results 21 - 30 of 219 for Growth abnormality
  1. AMER1 gene 
    ... soon after birth. Affected females have excessive bone growth (hyperostosis), which leads to multiple skeletal abnormalities including an unusually large head (macrocephaly) and abnormal ...
    https://medlineplus.gov/genetics/gene/amer1 - Genetics
  2. GJB6 gene 
    ... mutations are not fully understood, they lead to abnormalities in the growth, division, and maturation of cells in the hair ...
    https://medlineplus.gov/genetics/gene/gjb6 - Genetics
  3. ACP5 gene 
    ... immune dysregulation (SPENCDI). This condition is characterized by abnormalities in bone growth and immune system function. The ACP5 gene mutations ...
    https://medlineplus.gov/genetics/gene/acp5 - Genetics
  4. ESCO2 gene 
    ... syndrome, which is characterized by limb and facial abnormalities and slow growth before and after birth. These mutations prevent the ...
    https://medlineplus.gov/genetics/gene/esco2 - Genetics
  5. GJB2 gene 
    ... with the function of other connexin proteins. These abnormalities could affect skin growth and also impair hearing by disturbing the conversion ...
    https://medlineplus.gov/genetics/gene/gjb2 - Genetics
  6. PRKAR1A gene 
    ... in protein kinase A activity, which disrupts cell growth and division and leads to the skeletal abnormalities seen in people with this condition. CAR CNC1 ...
    https://medlineplus.gov/genetics/gene/prkar1a - Genetics
  7. TRPS1 gene 
    ... of certain genes that control bone and cartilage growth, which contributes to short stature, abnormal bones in the fingers and toes, joint abnormalities, and distinctive facial features in people with TRPS ...
    https://medlineplus.gov/genetics/gene/trps1 - Genetics
  8. TUBB3 gene 
    ... movement and droopy eyelids. Researchers suspect that abnormal growth of neurites within the brain leads to brain abnormalities that underlie intellectual disability and other neurological problems ...
    https://medlineplus.gov/genetics/gene/tubb3 - Genetics
  9. DDX11 gene 
    ... cause Warsaw breakage syndrome. This condition causes multiple abnormalities that may include impaired growth, distinctive facial features, hearing loss, and heart malformations. ...
    https://medlineplus.gov/genetics/gene/ddx11 - Genetics
  10. COL2A1 gene 
    ... to cause spondyloperipheral dysplasia. This disorder of bone growth is characterized by disproportionate short stature, brachydactyly, platyspondyly, and other skeletal abnormalities. The COL2A1 gene variants that cause spondyloperipheral dysplasia ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
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