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Results 1 - 10 of 35 for Intellectual "disability," "X-linked" 30
  1. ... migration in the developing brain, leading to the intellectual disability and dystonia characteristic of Partington syndrome. More About This Health Condition At least 30 mutations in the ARX gene can cause X-linked lissencephaly with abnormal genitalia (XLAG). This condition is ...
  2. Alpha thalassemia X-linked intellectual disability syndrome is an inherited disorder that affects many parts of the body. This condition occurs almost exclusively ...
  3. ... 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 ...
  4. ... FRAXE syndrome Genetic Testing Registry: FRAXE FRAXE intellectual disability National Organization for Rare Disorders (NORD) INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109; XLID109 PubMed Gecz J, Gedeon AK, Sutherland ...
  5. ... of CCG repeats ranges from 6 to about 30. Variants (also called mutations) in the AFF2 gene cause fragile XE syndrome, a condition characterized by mild intellectual disability and learning difficulties. Nearly all cases are caused ...
  6. ... 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 ...
  7. ... have been identified in people with alpha thalassemia X-linked intellectual disability syndrome. The most common mutations change single protein ... the other signs and symptoms of alpha thalassemia X-linked intellectual disability syndrome. More About This Health Condition Some gene ...
  8. ... 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 ...
  9. ... gene have also been found in individuals with X-linked intellectual disability. These individuals have delayed development and other neurological problems but do not show other features of methylmalonic acidemia with ... features of X-linked disability, but does not severely impact vitamin B12 ...
  10. ... paraplegia). Affected individuals also have mild to moderate intellectual disability. People with spastic paraplegia type 1 do not usually have major abnormalities in structures of the brain.X-linked complicated corpus callosum agenesis is defined by underdevelopment ( ...
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