Syndromic X-Linked Intellectual Disability Claes-Jensen Type (MRXSJ)

Alias:
Syndromic X-Linked Intellectual Disability Due to Jarid1c Mutation
Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type
Syndromic X-Linked Mental Retardation Jarid1c-Related
Mrxscj
Mrxsj
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Syndromic X-Linked Intellectual Disability Claes-Jensen Type, also known as syndromic x-linked intellectual disability due to jarid1c mutation, is related to intellectual developmental disorder, x-linked, syndromic, claes-jensen type and syndromic x-linked intellectual disability siderius type, and has symptoms including seizures and restlessness. An important gene associated with Syndromic X-Linked Intellectual Disability Claes-Jensen Type is KDM5C (Lysine Demethylase 5C), and among its related pathways/superpathways are Chromatin organization and Chromatin Regulation / Acetylation. Affiliated tissues include eye and brain, and related phenotypes are Increased Nanog expression and mortality/aging
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Basic Information

Inheritance
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Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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14
102
16

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Gene & Mutation

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References Literature

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