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Ritscher-Schinzel syndrome 4

Summary

Ritscher-Schinzel syndrome-4 (RTSC4) is characterized by a constellation of congenital anomalies, including dysmorphic craniofacial features and structural brain anomalies, such as Dandy-Walker malformation (220200), hindbrain malformations, or agenesis of the corpus callosum, associated with global developmental delay and impaired intellectual development. Congenital cardiac defects have been reported in 1 family (summary by Ritscher et al., 1987 and Jeanne et al., 2021). 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: CRAM, CRMP-5, CRMP5, CV2, RTSC4, Ulip6, DPYSL5
    Summary: dihydropyrimidinase like 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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