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Article

Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry.

Clinical genetics - 1 Sept 2025

Callahan Nora C, Mahida Sonal, Sveden Abigail, Quinn Meg, Chopra Maya, Srivastava Siddharth

Abstract excerpt

Haploinsufficiency of SETD5, which facilitates gene transcription and histone modification, causes intellectual disability. However, the full phenotypic spectrum of SETD5 Disorder is not well characterized. We summarized clinical features of participants with SETD5 Disorder enrolled in the National Brain Gene Registry (BGR). We analyzed data from 13 individuals with a molecular diagnosis of SETD5 Disorder, ages...

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Identifiers

PMID: 40265665
DOI: 10.1111/cge.14746

Genes

SETD5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry.PMID 40265665Read ↗

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