Shprintzen Omphalocele Syndrome

Alias:
Omphalocele with Hypoplasia of Pharynx and Larynx, Learning Disability, Dysmorphic Facies, and Scoliosis
Pharynx and Larynx Hypoplasia with Omphalocele
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Shprintzen Omphalocele Syndrome, is also known as omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis, and has symptoms including nasal flaring Related phenotypes are webbed neck and anal atresia

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
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2

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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Comparison
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