Schilbach-Rott Syndrome (SBRS)

Alias:
Brss
Hypotelorism-Cleft Palate-Hypospadias Syndrome
Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias
Cleft Palate, Hypotelorism, and Hypospadias
Blepharofacioskeletal Syndrome
Brooke-Spiegler Syndrome
Sbrs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Schilbach-Rott Syndrome, also known as brss, is related to brooke-spiegler syndrome and cylindromatosis, familial. An important gene associated with Schilbach-Rott Syndrome is PTCH1 (Patched 1). Affiliated tissues include heart and brain, and related phenotypes are short stature and intellectual disability, mild

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
1
21
6

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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