Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type (MRXSC)

Alias:
Cabezas Syndrome
Mental Retardation, X-Linked, Syndromic 15
Mental Retardation, X-Linked, with Short Stature, Hypogonadism, and Abnormal Gait
Mental Retardation, X-Linked, with Short Stature
X-Linked Intellectual Disability, Cabezas Type
X-Linked Intellectual Disability Cabezas Type
Mrxs15
Mrxsc
Mrss
Intellectual Developmental Disorder, X-Linked Syndromic, Cabezas Type
Mental Retardation, X-Linked, Syndromic, Cabezas Type
Intellectual Deficit, X-Linked, Cabezas Type
Mrxhf2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type, also known as cabezas syndrome, is related to syndromic x-linked intellectual disability cabezas type and hypogonadism, and has symptoms including tremor and gait ataxia. An important gene associated with Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type is CUL4B (Cullin 4B). Affiliated tissues include testes and skin, and related phenotypes are short neck and inguinal hernia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Child
<1/1000000
1
6
15

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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