Distal Duplication 17q

Alias:
Distal Trisomy 17q
Telomeric Duplication 17q
Trisomy 17qter
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Distal Duplication 17q, also known as distal trisomy 17q, is related to cleft palate, isolated and stargardt disease. Affiliated tissues include spleen and heart, and related phenotypes are global developmental delay and intellectual disability, severe
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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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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