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Article

Natural history of NGLY1 deficiency: motor function & clinical features.

Human molecular genetics - 11 May 2026

Morrison Grace, Dwight Selina, Landy Hal, Mueller William F, Ventola Pam, Deck Regina, Schweighardt Becky, Wilsey Matt, Lee Kevin J, Suter Bernhard

Abstract excerpt

N-glycanase 1 (NGLY1) Deficiency is an ultra-rare neurodevelopmental disorder caused by biallelic loss-of-function mutations in the NGLY1 gene, leading to severe impairments in neurocognitive and motor function abilities in the affected patient population. Its core clinical features include global developmental delay, hyperkinetic movement disorders, elevation of liver transaminases, (hypo)alacrima, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42114141
DOI: 10.1093/hmg/ddag013
PMCID: PMC13160418

Genes

NGLY1
NHS

Provenance

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

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