Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.

doi:10.1111/cge.13132

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Article

Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.

Clinical genetics - 1 Apr 2018

Powis Z, Farwell Hagman K D, Mroske C, McWalter K, Cohen J S, Colombo R, Serretti A, Fatemi A, David K L, Reynolds J, Immken L, Nagakura H, Cunniff C M, Payne K, Barbaro-Dieber T, Gripp K W, Baker L, Stamper T, Aleck K A, Jordan E S, Hersh J H, Burton J, Wentzensen I M, Guillen Sacoto M J, Willaert R, Cho M T, Petrik I, Huether R, Tang S

Abstract excerpt

Diagnostic exome sequencing (DES) has aided delineation of the phenotypic spectrum of rare genetic etiologies of intellectual disability (ID). A SET domain containing 5 gene (SETD5) phenotype of ID and dysmorphic features has been previously described in relation to patients with 3p25.3 deletions and in a few individuals with de novo sequence alterations. Herein, we present additional patients with pathogenic...

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Identifiers

PMID: 28881385
DOI: 10.1111/cge.13132

Genes

SETD5
DES
SET

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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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