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Article

HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders.

Molecular genetics & genomic medicine - 1 Oct 2022

Wang Yanhong, Zheng Xuan, Feng Chao, Fan Xiaoge, Liu Lei, Guo Pengbo, Lei Zhi, Mei Shiyue

Abstract excerpt

BACKGROUND: Recent research found that biallelic HPDL variants can cause neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), with only a few reports. Clinical phenotypic information on individuals with damaging HPDL variants may also be incomplete. The phenotype of NEDSWMA is characterized by severe neurodevelopmental delay, brain atrophy, and spasticity in...

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Identifiers

PMID: 35985664
DOI: 10.1002/mgg3.2025
PMCID: PMC9544218

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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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