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Results 1 - 10 of 99 for Intellectual "disability," "X-linked" 2
  1. CASK-related intellectual disability 
    ... is a disorder of brain development that has two main forms: microcephaly with pontine and cerebellar hypoplasia (MICPCH), and X-linked intellectual disability (XL-ID) with or without nystagmus. Within each ...
    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 is on the X chromosome, one of the two sex chromosomes.) Signs and symptoms in affected males ...
    https://medlineplus.gov/genetics/gene/hdac8 - Genetics
  3. X-linked creatine deficiency 
    ... been estimated to account for between 1 and 2 percent of males with intellectual disability. Variants (also known as mutations) in the SLC6A8 gene cause X-linked creatine deficiency. The SLC6A8 gene provides instructions for ...
    https://medlineplus.gov/.../condition/x-linked-creatine-deficiency - Genetics
  4. CASK gene 
    ... have been identified in people with CASK-related intellectual disability. ... called X-linked intellectual disability (XL-ID) with or without nystagmus. ...
    https://medlineplus.gov/genetics/gene/cask - Genetics
  5. Alpha thalassemia X-linked intellectual disability syndrome 
    ... signs and symptoms of alpha thalassemia X-linked intellectual disability syndrome. ATRX This condition is inherited in an X-linked recessive pattern. The ATRX gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one ...
    https://medlineplus.gov/...x-linked-intellectual-disability-syndrome - Genetics
  6. Ohdo syndrome, Maat-Kievit-Brunner type 
    ... X-linked Ohdo syndrome Genetic Testing Registry: Blepharophimosis - ... Maat-Kievit A, Brunner HG, Maaswinkel-Mooij P. Two additional cases of the Ohdo blepharophimosis syndrome. Am ...
    https://medlineplus.gov/.../ohdo-syndrome-maat-kievit-brunner-type - Genetics
  7. X-linked intellectual disability, Siderius type 
    ... palate, and the other features of X-linked intellectual disability, Siderius type. PHF8 This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one ...
    https://medlineplus.gov/...ked-intellectual-disability-siderius-type - Genetics
  8. Partington syndrome 
    ... migration in the developing brain, leading to the intellectual disability and dystonia characteristic of Partington ... this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one ...
    https://medlineplus.gov/genetics/condition/partington-syndrome - Genetics
  9. PPM-X syndrome 
    ... Genetic Testing Registry: Rett syndrome X-linked intellectual ... U. Mechanisms of disease: neurogenetics of MeCP2 deficiency. Nat Clin Pract Neurol. 2006 Apr;2(4):212-21. doi: 10.1038/ncpneuro0148. Citation ...
    https://medlineplus.gov/genetics/condition/ppm-x-syndrome - Genetics
  10. FG syndrome 
    ... protein, it is unclear how they lead to intellectual disability, behavioral changes, and the physical features associated with this ... disorder, including MED12, are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one ...
    https://medlineplus.gov/genetics/condition/fg-syndrome - Genetics
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