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Article

Expanding the Phenotype of SETD5-Related Disorder Through a Facebook Support Group.

Pediatric neurology - 1 Sept 2026

Talaba Nicole, Northrup Hope, Hashmi Syed, Zeiger Jordan, Falugi Christina, Ashfaq Myla

Abstract excerpt

BACKGROUND: SETD5-related disorder is a neurodevelopmental condition caused by pathogenic variants in the SETD5 gene. Reported features include intellectual disability, developmental delay, autism spectrum disorder, feeding difficulties, hypotonia, and dysmorphic facial features. The disorder was first described in 2014 with fewer than 75 reported cases in the literature to date. Given its rarity, affected...

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Identifiers

PMID: 42468298
DOI: 10.1016/j.pediatrneurol.2026.06.019

Genes

SETD5

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