White-Sutton Syndrome (WHSUS)

Alias:
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
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Antenatal
<1/1000000
18
137
37

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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