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Results 1 - 10 of 39 for Intellectual "disability," "X-linked" 23
  1. CASK-related intellectual disability 
    ... microcephaly with pontine and cerebellar hypoplasia (MICPCH), and X-linked intellectual disability (XL-ID) with or without nystagmus. Within each ... intellectual deficit, Najm type Genetic Testing Registry: Syndromic X-linked ... Najm type National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
  2. HDAC8 gene 
    ... Dutch family with a form of X-linked intellectual disability. (X-linked refers to the fact that the HDAC8 gene ... Wilson-Turner syndrome, which is a form of X-linked intellectual disability. However, researchers speculate that it may actually be ...
    https://medlineplus.gov/genetics/gene/hdac8 - Genetics
  3. PHF8 gene 
    ... the PHF8 gene have been found to cause X-linked intellectual disability, Siderius type. This condition is characterized by mild ... cleft lip and palate found in males with X-linked intellectual disability, Siderius type. More About This Health Condition histone ...
    https://medlineplus.gov/genetics/gene/phf8 - Genetics
  4. PPM-X syndrome 
    ... retardation, syndromic 13 Genetic Testing Registry: Rett syndrome X-linked intellectual disability-psychosis-macroorchidism syndrome National Organization for Rare Disorders ( ...
    https://medlineplus.gov/genetics/condition/ppm-x-syndrome - Genetics
  5. OFD1 gene 
    ... found in a family with a form of X-linked intellectual disability. Individuals with this condition have severe intellectual disability, ... changes result in the signs and symptoms of X-linked intellectual disability. 71-7A CXorf5 JBTS10 MGC117039 MGC117040 OFD1_HUMAN ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  6. Lujan syndrome 
    ... habitus XLMR with marfanoid features Genetic Testing Registry: X-linked intellectual disability with marfanoid habitus Lujan-Fryns syndrome National Organization ...
    https://medlineplus.gov/genetics/condition/lujan-syndrome - Genetics
  7. CASK gene 
    ... cerebellar hypoplasia (MICPCH), and a milder form called X-linked intellectual disability (XL-ID) with or without nystagmus.The mutations ...
    https://medlineplus.gov/genetics/gene/cask - Genetics
  8. RPS6KA3 gene 
    ... the X chromosome, this condition is known as X-linked intellectual disability. Researchers believe that RPS6KA3 mutations are a rare ...
    https://medlineplus.gov/genetics/gene/rps6ka3 - Genetics
  9. MECP2 duplication syndrome 
    ... retardation syndrome Trisomy Xq28 Genetic Testing Registry: Syndromic X-linked intellectual disability Lubs type Proximal Xq28 duplication syndrome National Organization ...
    https://medlineplus.gov/.../condition/mecp2-duplication-syndrome - Genetics
  10. MECP2 gene 
    ... associated with some cases of moderate to severe X-linked intellectual disability without other features of the syndromes described above. ...
    https://medlineplus.gov/genetics/gene/mecp2 - Genetics
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