Chromosome 17q12 Deletion Syndrome

Alias:
17q12 Microdeletion Syndrome
Monosomy 17q12
Del(17)(q12)
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Chromosome 17q12 Deletion Syndrome, also known as 17q12 microdeletion syndrome, is related to chromosome 17q12 duplication syndrome and mayer-rokitansky-kuster-hauser syndrome. An important gene associated with Chromosome 17q12 Deletion Syndrome is DEL17Q12 (Chromosome 17q12 Deletion Syndrome), and among its related pathways/superpathways are 17q12 copy number variation syndrome and Markers of kidney cell lineage. Affiliated tissues include kidney and liver, and related phenotypes are multicystic kidney dysplasia and diabetes mellitus

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
1-9/1000000
15
69
10

Medical Symptom

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Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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Disease Model

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MGI
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References Literature

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