Details of Disease

General Information of Disease (ID: DISG5D0C)

• Disease Name: Complex neurodevelopmental disorder with or without congenital anomalies
• Definition: A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), in addition to one or more structural or functional anomaly(ies) that develops prenatally.
• Disease Hierarchy:
  DISB9AFI: Complex neurodevelopmental disorder
  DISG5D0C: Complex neurodevelopmental disorder with or without congenital anomalies

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RERE	OT3G4GBZ	Definitive	Autosomal dominant	[1]
TRRAP	OT68OI2Y	Definitive	Autosomal dominant	[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.