Details of Disease | DrugMAP

General Information of Disease (ID: DISCZRTM)

Disease Name	Intellectual developmental disorder, autosomal dominant 72
Synonyms	autosomal dominant intellectual developmental disorder-72; MRD72; developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome; SRRM2-related neurodevelopmental disorder
Definition	An autosomal dominant intellectual disability disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features.
Disease Hierarchy	DIS1I87P: Intellectual disability, autosomal dominant DISCZRTM: Intellectual developmental disorder, autosomal dominant 72
Disease Identifiers	MONDO ID MONDO_0957397 UMLS CUI C5830612 OMIM ID 620439 MedGen ID 1841248

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
SRRM2	OTSIMMC9	Definitive	Autosomal dominant	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.