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Article

Okur-Chung neurodevelopmental syndrome in a patient from Spain.

American journal of medical genetics. Part A - 1 Jan 2020

Martinez-Monseny Antonio F, Casas-Alba Dídac, Arjona César, Bolasell Mercè, Casano Paula, Muchart Jordi, Ramos Federico, Martorell Loreto, Palau Francesc, García-Alix Alfredo, Serrano Mercedes

Abstract excerpt

Okur-Chung neurodevelopmental syndrome (OCNS, MIM#617062) is a rare autosomal dominant syndrome related to CSNK2A1 mutations. It is characterized by intellectual disability, hypotonia, feeding and speech difficulties, dysmorphic features, and multisystem involvement. To date, less than 30 patients with OCNS have been described in detail in the literature, primarily in Asian populations. Here, we report a...

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PMID: 31729156
DOI: 10.1002/ajmg.a.61405

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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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