Association of ABHD12 Variants with the Spectrum of PHARC Syndrome Phenotypes.

doi:10.3390/ijms27167506

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Article

Association of ABHD12 Variants with the Spectrum of PHARC Syndrome Phenotypes.

International journal of molecular sciences - 21 Aug 2026

Romero-Vázquez Sara, Méjécase Cécile, Rodriguez-Martinez Ana Catalina, Cronbach Nicola, Moosajee Mariya

Abstract excerpt

PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataracts) syndrome is a rare neurodegenerative inherited disorder characterized by a spectrum of these clinical phenotypes. Due to the considerable heterogeneity in the age of onset of the different clinical features and the similarities with other conditions, it is often misdiagnosed. Variants in the ABHD12 gene have been identified as a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42653504
DOI: 10.3390/ijms27167506
PMCID: PMC13513054

Genes

ABHD12

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.