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Article

Delineating the Cognitive Profile of ODLURO Syndrome: Emergent Clues on the Endophenotype Across KMT2 Disorders.

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

Ng Rowena, O'Donnell-Luria Anne, Harris Jacqueline

Abstract excerpt

O'Donnell-Luria-Rodan syndrome (ODLURO) is a very rare disorder caused by heterozygous pathogenic variants in KMT2E. While intellectual disability is associated with this syndrome based on retrospective chart review, the neurocognitive phenotype remains unexplored. This case series provides insight into the cognitive profile of ODLURO and discusses these trends in the context of other better-characterized...

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Source

Identifiers

PMID: 40616444
DOI: 10.1002/ajmg.a.64160

Genes

KMT2E
KMT2A
KMT2D

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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