Chromosome 16p11.2 Duplication Syndrome

Alias:
Proximal 16p11.2 Microduplication Syndrome
Proximal Trisomy 16p11.2
Proximal Dup(16)(p11.2)
Autism, Susceptibility to, 14b
Autism 14b
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Chromosome 16p11.2 Duplication Syndrome, also known as proximal 16p11.2 microduplication syndrome, is related to 16p11.2 duplication and episodic kinesigenic dyskinesia 1. An important gene associated with Chromosome 16p11.2 Duplication Syndrome is DUP16P11.2 (Chromosome 16p11.2 Duplication Syndrome), and among its related pathways/superpathways is 16p11.2 proximal deletion syndrome. Affiliated tissues include eye, and related phenotypes are intellectual disability and failure to thrive

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Newborn
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6
29
18

Medical Symptom

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

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
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References Literature

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