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Article

De Novo SLC12A2 Variant Presenting as Congenital Hearing Loss With Vestibular Areflexia.

American journal of medical genetics. Part A - 1 Oct 2025

Ludin Katja, Kopps Anna M, Richard Celine, Unger Sheila

Abstract excerpt

Since 2016, variants in SLC12A2 have been implicated in human disease, with several different phenotypes being linked to the gene. The first report concerned a child with a complex syndrome marked by metabolic derangement but normal hearing and cognition and a de novo heterozygous loss of function variant. Subsequently, several patients with severe developmental delay, sensorineural hearing loss, and bi-allelic...

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Identifiers

PMID: 40503591
DOI: 10.1002/ajmg.a.64150

Genes

SLC12A2

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