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Results 11 - 16 of 16 for Dysmorphism
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  1. 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
  2. 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
  3. 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
  4. 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
  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
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