Syndromic X-Linked Intellectual Disability Cabezas Type (MRSS)

Alias:
Mental Retardation, X-Linked, with Short Stature, Hypogonadism, and Abnormal Gait
X-Linked Mental Retardation with Short Stature, Hypogonadism, and Abnormal Gait
Cabezas Syndrome; Syndromic X-Linked Mental Retardation 15
Mental Retardation, X-Linked, with Short Stature
X-Linked Mental Retardation with Short Stature
Mental Retardation, X-Linked, Syndromic 15
Mrxs15
Mrxsc
Mrss
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Syndromic X-Linked Intellectual Disability Cabezas Type, also known as mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait, is related to scleroderma, familial progressive and intellectual developmental disorder, x-linked, syndromic, cabezas type, and has symptoms including tremor and gait ataxia. An important gene associated with Syndromic X-Linked Intellectual Disability Cabezas Type is CUL4B (Cullin 4B), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include skin and lung, and related phenotype is Increased cell death in HCT116 cells.
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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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16
298
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Medical Symptom

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Gene & Mutation

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References Literature

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