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Ritscher-Schinzel syndrome 1 | RareConnect | RareConnect.io

/Ritscher-Schinzel syndrome

/Ritscher-Schinzel syndrome 1

Ritscher-Schinzel syndrome 1

Rare Disease

MONDO:0009073

Also Known As

Ritscher-Schinzel syndrome 1Ritscher-Schinzel syndrome caused by mutation in WASHC5Ritscher-Schinzel syndrome type 1WASHC5 Ritscher-Schinzel syndrome3C syndromeCraniocerebellocardiac dysplasiaDandy-Walker-like malformation with atrioventricular septal defectRTSCRTSC1Ritscher-Schinzel syndrome

Definition

Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:220210 ↗

GARD

Related Diseases

Ritscher-Schinzel syndrome 2

MONDO:0010499

Ritscher-Schinzel syndrome 4

MONDO:0030331

Ritscher-Schinzel syndrome 3

MONDO:0030864

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