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Results 1 - 10 of 37 for Abnormal facial expression
  1. ATRX gene 
    ... genes causes a blood disorder called alpha thalassemia. Abnormal expression of additional genes likely causes developmental delay, distinctive facial features, and the other signs and symptoms of ...
    https://medlineplus.gov/genetics/gene/atrx - Genetics
  2. DYRK1A gene 
    ... in these individuals include recurrent seizures (epilepsy), characteristic ... expression and disrupts proper neural development. However, the specific ...
    https://medlineplus.gov/genetics/gene/dyrk1a - Genetics
  3. POGZ gene 
    ... This disorder is characterized by intellectual disability, specific facial ... abnormal gene expression that affects development of the brain and other ...
    https://medlineplus.gov/genetics/gene/pogz - Genetics
  4. FGFR2 gene 
    ... amplification is associated with a poor disease outcome. Abnormal expression of the FGFR2 gene is also found in ...
    https://medlineplus.gov/genetics/gene/fgfr2 - Genetics
  5. AMER1 gene 
    ... abnormalities including an unusually large head (macrocephaly) and abnormal facial features. Males who survive infancy have bone abnormalities ...
    https://medlineplus.gov/genetics/gene/amer1 - Genetics
  6. SF3B4 gene 
    ... DH, Li B. Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez ...
    https://medlineplus.gov/genetics/gene/sf3b4 - Genetics
  7. GSN gene 
    ... pathogenic mechanisms in gelsolin-related amyloidosis: in vitro expression reveals an abnormal gelsolin fragment. Hum Mol Genet. 1994 Dec;3( ...
    https://medlineplus.gov/genetics/gene/gsn - Genetics
  8. TFAP2B gene 
    ... from the neural crest, including the heart and facial features. Abnormal development of these tissues leads to the major ...
    https://medlineplus.gov/genetics/gene/tfap2b - Genetics
  9. ASXL1 gene 
    ... cause Bohring-Opitz syndrome, a condition that causes abnormal head size and shape, distinctive facial features, joint abnormalities, intellectual disability, and other signs ...
    https://medlineplus.gov/genetics/gene/asxl1 - Genetics
  10. SIX3 gene 
    ... and symptoms of nonsyndromic holoprosencephaly are caused by abnormal development of the brain and face. More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/six3 - Genetics
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