Details of Disease | DrugMAP

General Information of Disease (ID: DISYURLC)

Disease Name	Developmental delay with variable intellectual disability and dysmorphic facies
Disease Hierarchy	DISYKSRF: Genetic disease DISYURLC: Developmental delay with variable intellectual disability and dysmorphic facies
Disease Identifiers	MONDO ID MONDO_0859306 UMLS CUI C5774242 OMIM ID 620098 MedGen ID 1824015

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
JARID2	OT14UM8H	Strong	Autosomal dominant	[1]
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References

1	Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability. Orphanet J Rare Dis. 2013 Jan 7;8:3. doi: 10.1186/1750-1172-8-3.