Syndromic X-Linked Intellectual Disability Turner Type (MRXST)

Alias:

Intellectual Disability, X-Linked Syndromic, Turner Type

Mental Retardation, X-Linked Syndromic, Turner Type

Mental Retardation, X-Linked, Syndromic, Turner Type

X-Linked Intellectual Disability, Brooks Type

Mental Retardation and Macrocephaly Syndrome

Brooks-Wisniewski-Brown Syndrome

Mrxst

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Syndromic X-Linked Intellectual Disability Turner Type, also known as intellectual disability, x-linked syndromic, turner type, is related to intellectual developmental disorder, x-linked, syndromic, turner type and brown syndrome. An important gene associated with Syndromic X-Linked Intellectual Disability Turner Type is HUWE1 (HECT, UBA And WWE Domain Containing E3 Ubiquitin Protein Ligase 1), and among its related pathways/superpathways is Class I MHC mediated antigen processing and presentation. Related phenotypes are Increased cell death in HCT116 cells and Downregulation of NFkappaB pathway

Related ID：

MALACARDS：SYN090