Chromosome Xq28 Duplication Syndrome

Alias:
Distal Xq28 Microduplication Syndrome
Int22h1/int22h2 Mediated-Xq28 Microduplication Syndrome
Distal Trisomy Xq28
Distal Dup(x)q(28)
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Chromosome Xq28 Duplication Syndrome, also known as distal xq28 microduplication syndrome, is related to non-syndromic x-linked intellectual disability and non-syndromic x-linked intellectual disability 72. An important gene associated with Chromosome Xq28 Duplication Syndrome is DUPXQ28 (Chromosome Xq28 Duplication Syndrome). Affiliated tissues include eye, and related phenotypes are intellectual disability and depression

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Newborn
<1/1000000
2
10
5

Medical Symptom

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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
No Data Found!
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