Details of Disease

General Information of Disease (ID: DISY25CS)

Disease Name O'Donnell-Luria-Rodan syndrome
Synonyms ODLURO; O'Donnell-Luria-Rodan syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DISY25CS: O'Donnell-Luria-Rodan syndrome
Disease Identifiers
MONDO ID
MONDO_0032793
UMLS CUI
C5193138
OMIM ID
618512
MedGen ID
1677602

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KMT2E OTYOLNOG Strong Autosomal dominant [1]
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References

1 Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9.