Details of Disease | DrugMAP

General Information of Disease (ID: DISJS0WU)

Disease Name	Yoon-Bellen neurodevelopmental syndrome
Disease Hierarchy	DIS372XH: Neurodevelopmental disorder DISJS0WU: Yoon-Bellen neurodevelopmental syndrome
Disease Identifiers	MONDO ID MONDO_0859221 UMLS CUI C5562066 OMIM ID 619701 MedGen ID 1794276

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
OGDHL	OT1AZK6R	Strong	Autosomal recessive	[1]
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References

1	Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia. Am J Hum Genet. 2021 Dec 2;108(12):2368-2384. doi: 10.1016/j.ajhg.2021.11.003. Epub 2021 Nov 19.