Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb

Alias:
17q11.2 Microduplication Syndrome
Nf1 Microduplication Syndrome
Grisart-Destree Syndrome
Trisomy 17q11.2
Dup(17)(q11.2)
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb, is also known as 17q11.2 microduplication syndrome. An important gene associated with Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb is DUP17Q11.2 (Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb). Related phenotypes are intellectual disability and global developmental delay

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
1
21
3

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

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CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

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PMID
Journal
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IF
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