Raynaud-Claes Syndrome (MRXSRC)

Alias:

Mrxsrc

Mrx49

Mental Retardation, X-Linked 49

Mrx15

Clcn4-Related X-Linked Intellectual Disability Syndrome

Intellectual Disability, X-Linked 49

Mental Retardation, X-Linked 15

Mental Retardation, X-Linked-49

X-Linked Mental Retardation 15

X-Linked Mental Retardation 49

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Raynaud-Claes Syndrome, also known as mrxsrc, is related to non-syndromic x-linked intellectual disability and syndromic x-linked intellectual disability cabezas type. An important gene associated with Raynaud-Claes Syndrome is CLCN4 (Chloride Voltage-Gated Channel 4), and among its related pathways/superpathways is rRNA processing in the mitochondrion. Affiliated tissues include brain, and related phenotypes are global developmental delay and seizure

Related ID：

MALACARDS：RYN006

OMIM：300114

MESH：D038901