Details of Disease | DrugMAP

General Information of Disease (ID: DISZI4O2)

Disease Name	Intellectual developmental disorder, autosomal dominant 69
Synonyms	MRD69; intellectual developmental disorder, autosomal dominant 69; mental retardation, autosomal dominant 69
Disease Hierarchy	DIS1I87P: Intellectual disability, autosomal dominant DISZI4O2: Intellectual developmental disorder, autosomal dominant 69
Disease Identifiers	MONDO ID MONDO_0029465 UMLS CUI C5676896 OMIM ID 617863 MedGen ID 1808299

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
LMAN2L	OTJ9FAWS	Limited	Autosomal dominant	[1]
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References

1	Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy. Ann Clin Transl Neurol. 2019 Mar 7;6(4):807-811. doi: 10.1002/acn3.727. eCollection 2019 Apr.