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Intellectual "disability," "X-linked" 53
- ... retardation syndrome Trisomy Xq28 Genetic Testing Registry: Syndromic X-linked intellectual disability Lubs type Proximal Xq28 duplication syndrome National Organization ...
- ... 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 ...
- ... associated with some cases of moderate to severe X-linked intellectual disability without other features of the syndromes described above. ...
- ... J Hum Genet. 2005 Jul;77(1):41-53. doi: 10.1086/431313. Epub 2005 May 11. Citation on PubMed or Free article on PubMed Central
- ... affects the entire brain. This condition causes severe intellectual disability, problems with movement, and seizures that are difficult ... a feature of several genetic syndromes characterized by intellectual disability and multiple birth defects. These include 22q11.2 ...
- ... abnormalities (typically affecting the toes), hearing loss, and intellectual disabilities. OFCD syndrome is very rare; the incidence is ...
- ... with fragile X syndrome have mild to moderate intellectual disability, while about one-third of affected females are ... children with an FMR1 premutation may have learning disabilities or autistic-like behavior. The premutation is ... Fragile X syndrome is inherited in an X-linked dominant pattern. A condition is considered X-linked ...
- ... microcephaly). This underdevelopment of the brain causes severe intellectual disability, delayed development, and recurrent seizures (epilepsy) in individuals ...
- ... the brain disrupts normal brain development, resulting in intellectual disability and problems with movement.If T3 is not ...
- ... NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND ABSENT SENSORY LARGE MYELINATED FIBERS CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4A; CMT4A CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA; CMTX4 ...