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Article

Extending the phenotype of DeSanto-Shinawi syndrome: A case report and literature review.

American journal of medical genetics. Part A - 1 Mar 2022

Ho Stephanie, Luk Ho-Ming, Lo Ivan F M

Abstract excerpt

DeSanto-Shinawi syndrome (DESSH, OMIM #616708) is a rare autosomal dominant neurodevelopmental disorder caused by loss-of-function variants in the WAC gene. Affected individuals are characterized by neonatal hypotonia, developmental delay, intellectual disability, behavioral problems, and dysmorphism. Epilepsy is present in some of the patients with DESSH. By far, less than 30 affected individuals have been...

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PMID: 34797027
DOI: 10.1002/ajmg.a.62571

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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