Christianson Syndrome

Alias:

X-Linked Angelman-Like Syndrome

X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome

Mental Retardation, Microcephaly, Epilepsy, and Ataxia Syndrome

Mental Retardation, X-Linked, Syndromic, Christianson Type

Mental Retardation, X-Linked Syndromic, Christianson Type

X-Linked Intellectual Disability, South African Type

Intellectual Deficit, X-Linked, South African Type

Mental Retardation X-Linked, South African Type

Angelman-Like Syndrome, X-Linked

Mrxsch

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Christianson Syndrome, also known as x-linked angelman-like syndrome, is related to angelman syndrome and complex partial epilepsy, and has symptoms including ataxia, ophthalmoplegia and sleep disturbances. An important gene associated with Christianson Syndrome is SLC9A6 (Solute Carrier Family 9 Member A6), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Fragile X syndrome. Affiliated tissues include eye and cerebellum, and related phenotypes are developmental regression and macrotia

Related ID：

MALACARDS：CHR174

MESH：C537450