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Intellectual "disability," "X-linked" 50
- ... 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) ...
- ... 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 ...
- ... lead to problems in the urinary tract.Mild intellectual disability and developmental delay occur in about 50 percent of people with Opitz G/BBB syndrome. ...
- ... SLC6A8 gene have been identified in people with X-linked creatine deficiency, a disorder that causes intellectual disability, behavioral problems, seizures, and muscle weakness. SLC6A8 gene ...
- Skin Pigmentation Disorders/Specifics ... Skin Pigmentation Disorders ... Genetic and Rare Diseases Information Center ... From the National Institutes of Health ... Find ...
- ... disease develop progressive hearing loss, and 30 to 50 percent of people affected experience developmental delays in motor skills such as sitting up and walking. Other problems may include mild to moderate intellectual disability, often with psychosis, and abnormalities that can affect ...
- ... disease. This kind of gene inheritance is called X-linked recessive . In some people, the disease is not inherited from their parents. Instead, the gene defect occurs at the time the baby is conceived.
- Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
- ... 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 ...
- ... More severe cases also cause delayed development, significant intellectual disability, and recurrent infections; severely affected individuals may survive ...
(Genetic and Rare Diseases Information Center) 