Details of Disease | DrugMAP

General Information of Disease (ID: DISAQVWQ)

Disease Name	Global developmental delay with or without impaired intellectual development
Synonyms	GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT; GDDI
Disease Hierarchy	DISYKSRF: Genetic disease DISAQVWQ: Global developmental delay with or without impaired intellectual development
Disease Identifiers	MONDO ID MONDO_0032680 UMLS CUI C5193032 OMIM ID 618330 MedGen ID 1675328

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EMC10	OTQ6S50X	Limited	Autosomal recessive	[1]
CUX1	OTU1LCNJ	Strong	Autosomal dominant	[2]
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References

1	EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay. Clin Genet. 2020 Dec;98(6):555-561. doi: 10.1111/cge.13842. Epub 2020 Sep 15.
2	Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior. Cell. 2016 Oct 6;167(2):341-354.e12. doi: 10.1016/j.cell.2016.08.071. Epub 2016 Sep 22.