Chromosome 17q23.1-Q23.2 Deletion Syndrome

Alias:
17q23.1q23.2 Microdeletion Syndrome
Monosomy 17q23.1q23.2
Del(17)(q23.1q23.2)
17q23.1-Q23.2 Microdeletion Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Chromosome 17q23.1-Q23.2 Deletion Syndrome, also known as 17q23.1q23.2 microdeletion syndrome, is related to progressive myoclonus epilepsy 1b and vertical talus, congenital. An important gene associated with Chromosome 17q23.1-Q23.2 Deletion Syndrome is DEL17Q23.1Q23.2 (Chromosome 17q23.1-Q23.2 Deletion Syndrome). Affiliated tissues include heart and lung, and related phenotypes are delayed speech and language development and moderate global developmental delay

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Newborn
<1/1000000
12
88
8

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
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IF
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