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Article

Novel RORA Variants Reveal Genotype-Phenotype Diversity and Variable Expressivity in Neurodevelopmental Disorders.

Clinical genetics - 1 May 2026

Unsel-Bolat Gul, Bolat Hilmi, Citli Senol, Ozdemir Ozlem, Baris Ibrahim

Abstract excerpt

The RAR-related orphan receptor alpha (RORA) gene encodes a nuclear receptor involved in transcriptional regulation, circadian rhythm, and neurodevelopment. Dominant RORA variants are associated with intellectual developmental disorder with or without epilepsy or cerebellar ataxia, yet the phenotypic spectrum remains poorly defined. We performed comprehensive genetic and clinical analyses in four individuals with...

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Identifiers

PMID: 41387281
DOI: 10.1111/cge.70120

Genes

RORA

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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