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Article

Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder.

Genes - 28 Mar 2024

Cordova Ineke, Blesson Alyssa, Savatt Juliann M, Sveden Abigail, Mahida Sonal, Hazlett Heather, Rooney Riggs Erin, Chopra Maya

Abstract excerpt

Pathogenic ASH1L variants have been reported in probands with broad phenotypic presentations, including intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, seizures, congenital anomalies, and other skeletal, muscular, and sleep differences. Here, we review previously published individuals with pathogenic ASH1L variants and report three further probands with novel ASH1L...

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Source

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Identifiers

PMID: 38674358
DOI: 10.3390/genes15040423
PMCID: PMC11049257

Genes

ASH1L

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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