Details of Disease

General Information of Disease (ID: DIS09FBL)

• Disease Name: Complex neurodevelopmental disorder with motor features
• 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). Additionally, the disorder features at least one phenotype associated with motor function, including but not limited to spasticity, hypo- or hypertonia, dyskinesia, choreo-athetosis, or ataxia.|This term is similar to cerebral palsy, but this is for individuals who do not have a clinical diagnosis. There is a subset of cases that encompass both complex neurodevelopmental disorders and motor features.
• Disease Hierarchy:
  DISB9AFI: Complex neurodevelopmental disorder
  DIS09FBL: Complex neurodevelopmental disorder with motor features

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
CACNA1B	DTMKD76	Moderate	Autosomal recessive	[1]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADD3	OTDRSHAZ	Moderate	Autosomal recessive	[1]
CACNA1B	OTRM0XDW	Moderate	Autosomal recessive	[1]
EMC1	OTYAH4LX	Moderate	Autosomal recessive	[1]
KMT2B	OTMMAZQX	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.