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Results 21 - 30 of 65 for Dysmorphism
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  1. White-Sutton syndrome 
    ... with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism. Am J Med Genet A. 2017 Jul;173( ...
    https://medlineplus.gov/genetics/condition/white-sutton-syndrome - Genetics
  2. LBR gene 
    ... Noort G, Waterham HR, Hall CM, Hennekam RC. Congenital abnormalities reported in Pelger-Huet homozygosity as compared to ...
    https://medlineplus.gov/genetics/gene/lbr - Genetics
  3. KCNK9 gene 
    ... Birk OS. Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically ...
    https://medlineplus.gov/genetics/gene/kcnk9 - Genetics
  4. YWHAE gene 
    ... region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet. ...
    https://medlineplus.gov/genetics/gene/ywhae - Genetics
  5. Miller-Dieker syndrome 
    ... region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet. ...
    https://medlineplus.gov/genetics/condition/miller-dieker-syndrome - Genetics
  6. Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 
    ... syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation. Am J Med Genet. 1999 ...
    https://medlineplus.gov/...ay-barber-biesecker-young-simpson-variant - Genetics
  7. UNC80 gene 
    ... syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its ...
    https://medlineplus.gov/genetics/gene/unc80 - Genetics
  8. Chromosome 2 
    ... of ring chromosome 2 with growth retardation, mild dysmorphism, and microdeletion of 2p detected using FISH. J ...
    https://medlineplus.gov/genetics/chromosome/2 - Genetics
  9. Chromosome 17 
    ... region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet. ...
    https://medlineplus.gov/genetics/chromosome/17 - Genetics
  10. POGZ gene 
    ... with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism. Am J Med Genet A. 2017 Jul;173( ...
    https://medlineplus.gov/genetics/gene/pogz - Genetics
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