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Article

Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants.

European journal of medical genetics - 1 Mar 2023

Poole Rebecca L, Badonyi Mihaly, Cozens Alison, Foulds Nicola, Marsh Joseph A, Rahman Shamima, Ross Alison, Schooley Joanna, Straub Volker, Quigley Alan J, FitzPatrick David, Lampe Anne

Abstract excerpt

Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) is a recently described genetic condition caused by de novo missense HK1 variants. Phenotypic data is currently limited; only seven patients have been published to date. This descriptive case series of a further four patients with de novo missense HK1 variants, alongside integration of phenotypic data with the reported cases, aims to...

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Identifiers

PMID: 36639056
DOI: 10.1016/j.ejmg.2023.104696

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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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