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Results 1 - 6 of 6 for Dysmorphism
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  1. CTDP1 gene 
    ... L, Chamova T. CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy. 2010 Mar 2 [updated 2022 Oct ... Citation on PubMed Kalaydjieva L. Congenital cataracts-facial dysmorphism-neuropathy. Orphanet J Rare Dis. 2006 Aug 29; ...
    https://medlineplus.gov/genetics/gene/ctdp1 - 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. 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
  6. 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