WebChristianson syndrome is an X-linked syndrome associated with intellectual disability, microcephaly, seizures, ataxia, and absent speech. [1898] [1899] Many individuals with … WebMar 23, 2024 · Christianson Syndrome is a rare genetic disorder that affects the nervous system and causes intellectual disability, seizures, and difficulty with speech and movement. There are two types of Christianson Syndrome: Type 1, which is caused by mutations in the SLC9A6 gene, and Type 2, which is caused by mutations in the SLC9A6 gene or …
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, …
WebJul 21, 2014 · Because the severe autism-like condition Christianson syndrome was first reported only in 1999 and some symptoms take more than a decade to appear, families … WebX-linked mental retardation (XLMR) is an inherited condition mimicking Angelman syndrome. The syndrome is characterized by microcephaly, epilepsy, ataxia, impaired ocular movement and failure to develop cognitive abilities due to mutations of several genes on the X chromosome (Christianson et al., 1999; Schroer et al., 2010 ). touching wood 馬
Christianson syndrome - National Organization for Rare …
WebJan 14, 2024 · We investigated the existence and potential pathogenicity of a SLC9A6 splicing variant in a Chinese boy with Christianson Syndrome (CS), which was reported for the first time in China. Trio whole-exome sequencing (WES) was performed in the proband and his parents. Multiple computer prediction tools were used to evaluate the … WebSep 24, 2024 · SLC9A6 gene mutations cause Christianson syndrome, a genetic disorder which affects brain development. As described by the Christianson Syndrome Association (CSA): The SLC9A6 gene codes for the NHE6 protein, …part of a family of proteins that are sodium/hydrogen exchangers. The NHE6 protein is found in endosome, which take up … WebChristianson syndrome is a rare genetic disorder. It occurs when one or both biological parents pass down a specific gene change (mutation). This condition mostly affects men and people assigned male at birth and leads to intellectual disability, balance issues or loss of … pot roast kit walmart