Details of Disease | DrugMAP

General Information of Disease (ID: DISI3QE9)

Disease Name	X-linked complex neurodevelopmental disorder
Synonyms	X-linked complex neurodevelopmental disorder
Definition	A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy.
Disease Hierarchy	DISYOKTG: Mendelian neurodevelopmental disorder DIS3PN9X: X-linked disease DISB9AFI: Complex neurodevelopmental disorder DISI3QE9: X-linked complex neurodevelopmental disorder

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 22 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ZDHHC15	OTCT1D53	Disputed	X-linked	[1]
UPF3B	OTSI7RMZ	Definitive	X-linked	[1]
WDR45	OTTN49JK	Definitive	X-linked	[1]
ZNF711	OT2IV5P4	Definitive	X-linked	[1]
CDK16	OTUBXIIT	Limited	X-linked	[1]
AGTR2	OTU8GU9M	Disputed	X-linked	[1]
CLIC2	OTDBURM4	Disputed	X-linked	[1]
SHROOM4	OT33GO6E	Disputed	X-linked	[1]
ARHGEF9	OTB1FLIW	Moderate	X-linked	[1]
NLGN3	OTKDEC1Q	Moderate	X-linked	[1]
ARX	OTBGYH25	Definitive	X-linked	[1]
CNKSR2	OTAGERJ2	Definitive	X-linked	[1]
FRMPD4	OT60SNXQ	Definitive	X-linked	[1]
FTSJ1	OTNE7W96	Definitive	X-linked	[1]
GRIA3	OT34CNBR	Definitive	X-linked	[1]
IQSEC2	OTYFRM4Q	Definitive	X-linked	[1]
NEXMIF	OT576F40	Definitive	X-linked	[1]
NLGN4X	OTDJGBK8	Definitive	X-linked	[1]
PCDH19	OTSOW3MV	Definitive	X-linked	[1]
SLC35A2	OTQOTOWZ	Definitive	X-linked	[1]
SMC1A	OT9ZMRK9	Definitive	X-linked	[1]
SYN1	OTMNPWC1	Definitive	X-linked	[1]
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⏷ Show the Full List of 22 DOT(s)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AGTR2	TTQVOEI	Disputed	X-linked	[1]
GRIA3	TT82EZV	Definitive	X-linked	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC35A2	DT0567K	Definitive	X-linked	[1]
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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.