Details of Disease | DrugMAP

General Information of Disease (ID: DISCBB5W)

Disease Name	Intellectual developmental disorder 60 with seizures
Synonyms	INTELLECTUAL DEVELOPMENTAL DISORDER 60 WITH SEIZURES; MRD60; Mental Retardation, Autosomal Dominant 60, With Seizures
Disease Hierarchy	DISD6L06: Autosomal dominant non-syndromic intellectual disability DISCBB5W: Intellectual developmental disorder 60 with seizures
Disease Identifiers	MONDO ID MONDO_0032823 UMLS CUI C5231497 OMIM ID 618587 MedGen ID 1684702

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
AP2M1	OTQCOSFN	Strong	Autosomal dominant	[1]
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References

1	A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. Am J Hum Genet. 2019 Jun 6;104(6):1060-1072. doi: 10.1016/j.ajhg.2019.04.001. Epub 2019 May 16.