Ritscher-Schinzel syndrome 1
MONDO:0009073Mondo
Findings
No curated finding names Ritscher-Schinzel syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene.
Definition from the Mondo Disease Ontology (MONDO:0009073), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- WASHC5HGNC:28984
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2021
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · ClinGen · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: Ritscher-Schinzel syndrome 1
- Also called
- Ritscher-Schinzel syndrome caused by mutation in WASHC5Ritscher-Schinzel syndrome type 1WASHC5 Ritscher-Schinzel syndrome