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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 ...
- ... 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.
- Fragile X-Associated Disorders (FXD): A Handbook for Families, Health Care Providers, Counselors, and Educators (National Fragile X Foundation) - PDFFragile X Syndrome/Start Here ... Fragile X Syndrome ... National Fragile X Foundation ... PDF ... fragile x, handbook, 3rd edition, NFXF
- ... More severe cases also cause delayed development, significant intellectual disability, and recurrent infections; severely affected individuals may survive ...
- ... before and after birth leading to short stature; intellectual disability that is usually moderate to severe; and abnormalities ... those with HDAC8 gene variants may have significant intellectual disability.In about 15 percent of cases, the cause ...
(National Human Genome Research Institute) 