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Article

A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.

Clinical genetics - 1 Nov 2008

Day R, Beckett B, Donnai D, Fryer A, Heidenblad M, Howard P, Kerr B, Mansour S, Maye U, McKee S, Mohammed S, Sweeney E, Tassabehji M, de Vries B B A, Clayton-Smith J

Abstract excerpt

We report a series of eight patients with the Say/Barber/Biesecker/Young-Simpson (SBBYS) type of Ohdo syndrome, which is the largest cohort described to date. We expand on the type, frequency and severity of the clinical characteristics in this condition; comment on the natural history of Ohdo syndrome and further refine previously published diagnostic criteria. Cytogenetic investigations and microarray CGH...

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Identifiers

PMID: 18798845
DOI: 10.1111/j.1399-0004.2008.01087.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.PMID 18798845Read ↗

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The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.Semantic proximity Read ↗

Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.Semantic proximity Read ↗

Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.Semantic proximity Read ↗

De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.Semantic proximity Read ↗

Mutations in MED12 cause X-linked Ohdo syndrome.Semantic proximity Read ↗

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