Martin-Probst Syndrome (MRXSMP)

Alias:

Deafness-Intellectual Disability, Martin-Probst Type Syndrome

Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Martin-Probst Deafness-Mental Retardation Syndrome

Mrxsmp

Hearing Loss-Intellectual Disability Syndrome, Martin-Probst Type

X-Linked Hearing Loss-Intellectual Disability Syndrome Syndrome

Deafness-Intellectual Disability Syndrome, Martin-Probst Type

X-Linked Deafness-Intellectual Disability Syndrome Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Martin-Probst Syndrome, also known as deafness-intellectual disability, martin-probst type syndrome, is related to retinitis pigmentosa and neuronopathy, distal hereditary motor, x-linked. An important gene associated with Martin-Probst Syndrome is MRXSMP (Martin-Probst Deafness-Mental Retardation Syndrome), and among its related pathways/superpathways is Autophagy pathway. Affiliated tissues include eye and skin, and related phenotypes are dental malocclusion and abnormality of the dentition

Related ID：

MALACARDS：MRT012

OMIM：300519

MESH：D038901