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Ritscher-Schinzel syndrome 3

Summary

Ritscher-Schinzel syndrome-3 (RTSC3) is characterized by craniocerebellocardiac anomalies and severe postnatal growth restriction, as well as complicated skeletal malformations, including vertebral body hypoossification, sternal aplasia, and chondrodysplasia punctata. Other features include developmental delay, ocular anomalies, periventricular nodular heterotopia, and proteinuria (Kato et al., 2020). For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (220210). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C16orf62, EC97, RTSC3, VPS35L
    Summary: VPS35 endosomal protein sorting factor like

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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