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Results 11 - 20 of 24 for Dysmorphism
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  1. Xia-Gibbs syndrome 
    ... AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome Autosomal dominant intellectual disability 25 XGS Genetic ... AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome AHDC1-related intellectual disability-obstructive sleep apnea- ...
    https://medlineplus.gov/genetics/condition/xia-gibbs-syndrome - Genetics
  2. PACS1 syndrome 
    ... Autosomal dominant intellectual disability-17 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome PACS1-related syndrome Schuurs-Hoeijmakers syndrome ...
    https://medlineplus.gov/genetics/condition/pacs1-syndrome - Genetics
  3. 16p11.2 duplication 
    ... rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. ...
    https://medlineplus.gov/genetics/condition/16p112-duplication - Genetics
  4. UNC80 deficiency 
    ... syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its ...
    https://medlineplus.gov/genetics/condition/unc80-deficiency - Genetics
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
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