7q31 Microdeletion Syndrome

Alias:
Monosomy 7q31
Del(7)(q31)
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
7q31 Microdeletion Syndrome, also known as monosomy 7q31, is related to mastocytosis, cutaneous and mast-cell leukemia. An important gene associated with 7q31 Microdeletion Syndrome is FOXP2 (Forkhead Box P2). Affiliated tissues include olfactory bulb and skeletal muscle, and related phenotypes are delayed speech and language development and speech apraxia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Newborn
<1/1000000
1
15
--

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
Year
IF
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