Fryns Syndrome (FRNS)

Alias:
Diaphragmatic Hernia-Abnormal Face-Distal Limb Anomalies Syndrome
Diaphragmatic Hernia, Abnormal Face, and Distal Limb Anomalies
Nephrotic Syndrome - Frequently Relapsing
Frns
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Fryns Syndrome, also known as diaphragmatic hernia-abnormal face-distal limb anomalies syndrome, is related to multiple congenital anomalies-hypotonia-seizures syndrome 1 and multiple congenital anomalies-hypotonia-seizures syndrome, and has symptoms including seizures An important gene associated with Fryns Syndrome is PIGN (Phosphatidylinositol Glycan Anchor Biosynthesis Class N). Affiliated tissues include brain and eye, and related phenotypes are intellectual disability and high palate

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
1-9/100000
1
5
63

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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