Details of Disease | DrugMAP

General Information of Disease (ID: DISB2GTU)

Disease Name	Neurodevelopmental disorder with eye movement abnormalities and ataxia
Disease Hierarchy	DIS372XH: Neurodevelopmental disorder DISB2GTU: Neurodevelopmental disorder with eye movement abnormalities and ataxia
Disease Identifiers	MONDO ID MONDO_0859305 UMLS CUI C5774241 OMIM ID 620094 MedGen ID 1824014

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
FRMD5	OTC73XJK	Strong	Autosomal dominant	[1]
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References

1	Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders. Am J Hum Genet. 2019 Dec 5;105(6):1274-1285. doi: 10.1016/j.ajhg.2019.11.003. Epub 2019 Nov 27.