Ritscher-Schinzel Syndrome

Alias:
3c Syndrome
Cranio-Cerebello-Cardiac Dysplasia
Craniocerebellocardiac Dysplasia
Ccc Dysplasia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ritscher-Schinzel Syndrome, also known as 3c syndrome, is related to ritscher-schinzel syndrome 2 and ritscher-schinzel syndrome 1. An important gene associated with Ritscher-Schinzel Syndrome is WASHC5 (WASH Complex Subunit 5). Affiliated tissues include heart.
Related ID:
MESH:C535313

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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14
53
28

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
No Data Found!
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