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Intellectual "disability," "X-linked" 100
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... retardation syndrome Trisomy Xq28 Genetic Testing Registry: Syndromic X-linked intellectual disability Lubs type Proximal Xq28 duplication syndrome National Organization ...
- ... associated with some cases of moderate to severe X-linked intellectual disability without other features of the syndromes described above. ...
- ... over, and babbling. Most affected individuals also have intellectual disability throughout their lives. Infantile spasms are estimated to affect 1 to 1.6 in 100,000 individuals. This estimate includes DEE1 as well ...
- ... regions of the brain, which may contribute to intellectual disability and behavioral problems in people with ... This condition is inherited in an X-linked recessive pattern. The gene associated with this condition ...
- ... hypotonia), sagging facial features, seizures, developmental delay, and ... syndrome (sometimes called X-linked cutis laxa) is a less severe form of ...
- ... ataxia); involuntary movements of the eyes (nystagmus); mild intellectual disability; ... estimated to be 2 to 6 in 100,000 people worldwide. Spastic paraplegia type 2 likely ...
- ... XXXY syndrome is a chromosomal condition that causes intellectual disabilities, developmental delays, physical differences, and an inability to ... XXXXY syndrome is a chromosomal condition that causes intellectual disabilities, developmental delays (especially in speech and language), changes ...
