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Article

Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.

Congenital anomalies - 1 Nov 2018

Kimura Yuichi, Akahira-Azuma Moe, Harada Noriaki, Enomoto Yumi, Tsurusaki Yoshinori, Kurosawa Kenji

Abstract excerpt

We describe a novel de novo heterozygous variant in SYNGAP1 (c.1741C>T, p.R581W), identified through targeted resequencing in an 8-year-old boy with intellectual disability, autism spectrum disorder, distinctive dysmorphic features, and no seizures. Our data strongly suggest that the SYNGAP1 variant is causative of intellectual disability in this patient.

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Source

Identifiers

PMID: 29381230
DOI: 10.1111/cga.12273

Genes

SYNGAP1

Variants

Provenance

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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