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Results 1 - 10 of 504 for hypoplasia
  1. AMELX gene 
    The AMELX gene provides instructions for making a protein called amelogenin, which is essential for normal tooth development. Amelogenin is involved in the ...
    https://medlineplus.gov/genetics/gene/amelx - Genetics
  2. ENAM gene 
    The ENAM gene provides instructions for making a protein called enamelin, which is essential for normal tooth development. Enamelin is involved in the formation ...
    https://medlineplus.gov/genetics/gene/enam - Genetics
  3. RMRP gene 
    ... by severe short stature (dwarfism) and other skeletal abnormalities. The RMRP gene mutations that cause anauxetic dysplasia ... More than 100 mutations that cause cartilage-hair hypoplasia have been identified in the RMRP gene. Approximately ...
    https://medlineplus.gov/genetics/gene/rmrp - Genetics
  4. RARS2 gene 
    ... with a disorder of brain development called pontocerebellar hypoplasia. The major features of this condition include delayed ... cause a form of the disorder designated pontocerebellar hypoplasia type 6 (PCH6). One mutation has been found ...
    https://medlineplus.gov/genetics/gene/rars2 - Genetics
  5. TSEN54 gene 
    ... with a disorder of brain development called pontocerebellar hypoplasia. The major features of this condition include delayed ... of a form of the disorder designated pontocerebellar hypoplasia type 2 (PCH2). When PCH2 results from TSEN54 ...
    https://medlineplus.gov/genetics/gene/tsen54 - Genetics
  6. NOTCH1 gene 
    ... Notch1 signaling may underlie blood vessel and heart abnormalities in people with Adams-Oliver syndrome. However, while these types of abnormalities are more common in affected individuals with NOTCH1 ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics
  7. FLNA gene 
    ... Melnick-Needles syndrome (described below). Frontometaphyseal dysplasia involves abnormalities in skeletal development, particularly involving the joints, and ...
    https://medlineplus.gov/genetics/gene/flna - Genetics
  8. EXOSC3 gene 
    ... with a disorder of brain development called pontocerebellar hypoplasia. The major features of this condition include delayed ... of a form of the disorder designated pontocerebellar hypoplasia type 1 (PCH1). When PCH1 results from EXOSC3 ...
    https://medlineplus.gov/genetics/gene/exosc3 - Genetics
  9. HNF1B gene 
    ... diabetes, people with RCAD typically also have kidney abnormalities (primarily fluid-filled sacs called cysts). Affected individuals may also have abnormalities of the pancreas, liver, or genital tract; or ...
    https://medlineplus.gov/genetics/gene/hnf1b - Genetics
  10. PORCN gene 
    ... gene have been found to cause focal dermal hypoplasia. These mutations may alter the protein's structure, ... mutations and the protean nature of focal dermal hypoplasia. Br J Dermatol. 2009 May;160(5):1103- ...
    https://medlineplus.gov/genetics/gene/porcn - Genetics
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