Anal Atresia, Hypospadias, and Penoscrotal Inversion

Alias:
Distal Monosomy 13q
Telomeric Deletion 13q
Distal Deletion 13q
13q32 Deletion
Deletion 13q32
Monosomy 13q32
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Anal Atresia, Hypospadias, and Penoscrotal Inversion, also known as distal monosomy 13q, is related to microcoria, congenital and celiac disease 1. Affiliated tissues include eye, and related phenotypes are hypertelorism and microcephaly

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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4

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

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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