Ritscher-Schinzel Syndrome 1 (RTSC1)

Alias:
3c Syndrome
Craniocerebellocardiac Dysplasia
Dandy-Walker-Like Malformation with Atrioventricular Septal Defect
Ritscher-Schinzel Syndrome
Rtsc1
Dandy-Walker Like Malformation with Atrioventricular Septal Defect
3c
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ritscher-Schinzel Syndrome 1, also known as 3c syndrome, is related to ritscher-schinzel syndrome 2 and ritscher-schinzel syndrome. An important gene associated with Ritscher-Schinzel Syndrome 1 is WASHC5 (WASH Complex Subunit 5). Affiliated tissues include heart and brain, and related phenotypes are intellectual disability and frontal bossing
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
XL
XLD
Antenatal
<1/1000000
19
80
28

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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