Details of Disease | DrugMAP

General Information of Disease (ID: DISGQNCA)

Disease Name	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISG1YOH: X-linked syndromic intellectual disability DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISGQNCA: X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome

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
TAF1	OTDYS5G4	Supportive	X-linked	[1]
------------------------------------------------------------------------------------

References

1	TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. Am J Hum Genet. 2015 Dec 3;97(6):922-32. doi: 10.1016/j.ajhg.2015.11.005.