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Article

Clinical phenotype of ASD-associated DYRK1A haploinsufficiency.

Molecular autism - 1 Jan 2017

Earl Rachel K, Turner Tychele N, Mefford Heather C, Hudac Caitlin M, Gerdts Jennifer, Eichler Evan E, Bernier Raphael A

Abstract excerpt

BACKGROUND: DYRK1A is a gene recurrently disrupted in 0.1-0.5% of the ASD population. A growing number of case reports with DYRK1A haploinsufficiency exhibit common phenotypic features including microcephaly, intellectual disability, speech delay, and facial dysmorphisms. METHODS: Phenotypic information from previously published DYRK1A cases (n = 51) and participants in an ongoing study at the University of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 29034068
DOI: 10.1186/s13229-017-0173-5
PMCID: PMC5629761

Genes

CHD8

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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