Blepharonasofacial Malformation Syndrome

Alias:
Pashayan Syndrome
Pashayan-Pruzansky Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Blepharonasofacial Malformation Syndrome, also known as pashayan syndrome, is related to van maldergem syndrome and blepharo naso facial syndrome van maldergem type. Affiliated tissues include skin and eye, and related phenotypes are wide nasal bridge and mask-like facies

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLR
AD
XL
Child
<1/1000000
--
--
3

Medical Symptom

#
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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