Details of Disease | DrugMAP

General Information of Disease (ID: DISJ2RXI)

Disease Name	Syndromic complex neurodevelopmental disorder
Definition	A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), and also a distinctive pattern of other features including dysmorphisms and/or congenital malformations.
Disease Hierarchy	DISB9AFI: Complex neurodevelopmental disorder DISJ2RXI: Syndromic complex neurodevelopmental disorder

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ZMYND11	OT2A1WLT	Definitive	Autosomal dominant	[1]
ASH1L	OTUT5NLJ	Definitive	Autosomal dominant	[1]
SETD5	OTRPAVEO	Definitive	Autosomal dominant	[1]
TFE3	OTM99ZWH	Definitive	X-linked	[1]
------------------------------------------------------------------------------------

References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.