White-Sutton Syndrome (WHSUS)

White-Sutton Syndrome(来自ICD-11)

别称:

Intellectual Disability-Microcephaly-Strabismus-Behavioral Abnormalities Syndrome

Whsus

Mrd37

Mental Retardation, Autosomal Dominant 37

Pogz-Related Intellectual Disability Syndrome

Autosomal Dominant Mental Retardation 37

White Sutton Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

White-Sutton Syndrome, also known as intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, is related to autism and autism spectrum disorder. An important gene associated with White-Sutton Syndrome is POGZ (Pogo Transposable Element Derived With ZNF Domain), and among its related pathways/superpathways is Tumor suppressor activity of SMARCB1. Affiliated tissues include pons and heart, and related phenotypes are intellectual disability and global developmental delay

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