Vacterl with Hydrocephalus

Alias:
Sujansky-Leonard Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Vacterl with Hydrocephalus, also known as sujansky-leonard syndrome, is related to hydrocephalus and fanconi anemia, complementation group a. An important gene associated with Vacterl with Hydrocephalus is PTEN (Phosphatase And Tensin Homolog). Related phenotypes are intellectual disability and hydrocephalus
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
XL
XLD
Newborn
<1/1000000
2
42
5

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
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