Lymphedema, Cardiac Septal Defects, and Characteristic Facies

Alias:
Irons-Bianchi Syndrome
Lymphedema-Atrial Septal Defects-Facial Changes Syndrome
Irons-Bhan Syndrome
Lymphedema, Atrial Septal Defect, and Characteristic Facies
Irons Bhan Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Lymphedema, Cardiac Septal Defects, and Characteristic Facies, also known as irons-bianchi syndrome, is related to hereditary lymphedema i and heart septal defect. Affiliated tissues include skin and testis, and related phenotypes are depressed nasal bridge and delayed speech and language development

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
--
--
3

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
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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