WebChristianson syndrome is a disorder that primarily affects the nervous system. This condition becomes apparent in infancy. Its characteristic features include delayed development, intellectual disability, an inability … WebChristianson syndrome (CS) is a novel, X-linked devel-opmental brain disorder, clinically recognized by the symptoms of global developmental delay, intellectual

About: Christianson syndrome

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 … WebJul 21, 2014 · A new study provides the most definitive characterization of the autism-like intellectual disability disorder Christianson Syndrome and provides the first diagnostic criteria to help doctors and ... shorebreak band ct

Christianson syndrome - Orphanet

WebChristianson syndrome is an X-linked syndrome associated with intellectual disability, microcephaly, seizures, ataxia, and absent speech. [1898] [1899] Many individuals with … 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 … WebChristianson syndrome Description Christianson syndrome is a disorder that primarily affects the nervous system. This condition becomes apparent in infancy. Its characteristic features include delayed development, intellectual disability, an inability to speak, problems with balance and coordination (ataxia), and difficulty standing or walking. shorebreak band