disease: Christianson syndrome

nameChristianson syndrome
descriptionChristianson syndrome (referred to as CS in this GeneReview), an X-linked disorder, is characterized in males by cognitive dysfunction, behavioral disorder, and neurologic findings (e.g., seizures, ataxia, postnatal microcephaly, and eye movement abnormalities). Males with CS typically present with developmental delay, later meeting criteria for severe intellectual disability (ID). Behaviorally, autism spectrum disorder and hyperactivity are common, and may resemble the behaviors observed in Angelman syndrome. Hypotonia and oropharyngeal dysphagia in infancy may result in failure to thrive. Seizures, typically beginning before age three years, can include infantile spasms and tonic, tonic-clonic, myoclonic, and atonic seizures. Subsequently, regression (e.g., loss of ambulation and ability to feed independently) may occur. Manifestations in heterozygous females range from asymptomatic to mild ID and/or behavioral issues.
variant-disease NM_001042537.1(SLC9A6):c.183del (p.Lys61fs) AND Christianson syndrome
NM_001042537.1(SLC9A6):c.630T>C (p.Ser210=) AND Christianson syndrome
NM_001042537.1(SLC9A6):c.1320C>T (p.Val440=) AND Christianson syndrome
NM_001042537.1(SLC9A6):c.1703G>A (p.Arg568Gln) AND Christianson syndrome
NM_001042537.1(SLC9A6):c.900-6C>T AND Christianson syndrome
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