Article

<i>FRMPD4</i> , a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing loss

2026-03-30

Abstract excerpt

<h4>Background</h4> Understanding the phenotypic spectrum of disease-associated genes is essential for accurate diagnosis and targeted therapy. FRMPD4 (FERM and PDZ Domain Containing 4) has previously been associated with intellectual disability and epilepsy. However, its potential role in non-syndromic hearing loss has not been explored. <h4>Methods</h4> We performed genetic analysis in two unrelated families...

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Literature Corpus work: 35c93550-3a77-5071-9394-c3045ba225e8
DOI: 10.64898/2026.03.27.26349271

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