Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type (MRXST)

Alias:

Juberg-Marsidi Syndrome

Brooks-Wisniewski-Brown Syndrome

Mental Retardation, X-Linked, Syndromic, Turner Type

Mental Retardation, X-Linked, with Growth Retardation, Deafness, and Microgenitalism

Mental Retardation, X-Linked, Syndromic, Brooks-Wisniewski-Brown Type

Mental Retardation and Macrocephaly Syndrome

Mrxsbwb

Mrxst

Jms

Intellectual Developmental Disorder, X-Linked Syndromic, Turner Type

Intellectual Disability, X-Linked Syndromic, Turner Type

Mental Retardation, X-Linked Syndromic, Turner Type

Brooks Wisniewski Brown Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type, also known as juberg-marsidi syndrome, is related to microcephaly and syndromic x-linked intellectual disability turner type, and has symptoms including constipation, vomiting and muscle spasticity. An important gene associated with Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type is HUWE1 (HECT, UBA And WWE Domain Containing E3 Ubiquitin Protein Ligase 1). Affiliated tissues include bone and skeletal muscle, and related phenotypes are intellectual disability and macrocephaly

Related ID：

MALACARDS：INT450

OMIM：309590

MESH：D038901