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Results 31 - 40 of 233 for Cerebral hypoplasia
  1. TBC1D20 gene 
    ... in RAB18 activity might lead to eye problems, brain abnormalities, and other features of Warburg micro syndrome.Because ...
    https://medlineplus.gov/genetics/gene/tbc1d20 - Genetics
  2. RAB3GAP1 gene 
    ... loss of RAB18 function leads to eye problems, brain abnormalities, and other features of these two conditions.Because ...
    https://medlineplus.gov/genetics/gene/rab3gap1 - Genetics
  3. RAB3GAP2 gene 
    ... loss of RAB18 function leads to eye problems, brain abnormalities, and other features of these two conditions.Because ...
    https://medlineplus.gov/genetics/gene/rab3gap2 - Genetics
  4. TBXT gene 
    ... tube defects, which can result in spine and brain abnormalities of varying severity, result when the neural tube ...
    https://medlineplus.gov/genetics/gene/tbxt - Genetics
  5. SLC25A1 gene 
    ... D,L-2-HGA). This condition causes severe brain abnormalities that become apparent in early infancy.Each of ...
    https://medlineplus.gov/genetics/gene/slc25a1 - Genetics
  6. FGFR2 gene 
    ... to a misshapen head, distinctive facial features, and brain abnormalities. Affected individuals often have abnormalities of the fingers ...
    https://medlineplus.gov/genetics/gene/fgfr2 - Genetics
  7. NSDHL gene 
    ... include seizures, a small head size (microcephaly), and brain abnormalities. Females who have a variant that causes CK ...
    https://medlineplus.gov/genetics/gene/nsdhl - Genetics
  8. PDGFRB gene 
    ... this condition also have distinctive facial features and brain abnormalities that result in intellectual disability and psychological problems. ...
    https://medlineplus.gov/genetics/gene/pdgfrb - Genetics
  9. TSEN54 gene 
    ... BT. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain. 2011 Jan;134(Pt 1):143-56. doi: 10.1093/brain/awq287. Epub 2010 Oct 15. Citation on PubMed Rudaks LI, ... causing pontocerebellar hypoplasia type 4. Pediatr Neurol. 2011 Sep;45(3): ...
    https://medlineplus.gov/genetics/gene/tsen54 - Genetics
  10. RARS2 gene 
    ... BT. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain. 2011 Jan;134(Pt 1):143-56. doi: ...
    https://medlineplus.gov/genetics/gene/rars2 - Genetics
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