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Article

Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome.

American journal of medical genetics. Part A - 1 May 2018

van Rij Maartje C, Hollink Iris H I M, Terhal Paulien Anna, Kant Sarina G, Ruivenkamp Claudia, van Haeringen Arie, Kievit J Anneke, van Belzen Martine J

Abstract excerpt

The SETD2-related overgrowth syndrome is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, macrocephaly, facial dysmorphism, and autism spectrum disorders. We report on two novel patients a 4.5-year-old boy and a 23-year-old female adolescent with a speech and language developmental delay, autism spectrum disorder and macrocephaly, who...

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Source

Identifiers

PMID: 29681085
DOI: 10.1002/ajmg.a.38666

Genes

SETD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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