complex neurodevelopmental disorder with motor features
Findings
No curated finding names complex neurodevelopmental disorder with motor features yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0100516), read 2026-09-29. CC BY 4.0.
Genes
7 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ELP2HGNC:18248
- Definitive · ClinGen · Autosomal recessive · 2025
- KMT2BHGNC:15840
- Definitive · ClinGen · Autosomal dominant · 2023
- EMC1HGNC:28957
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2022
- Moderate · ClinGen · Autosomal dominant · 2022
- PSMF1HGNC:9571
- Strong · PanelApp Australia · Autosomal recessive · 2025
- ADD3HGNC:245
- Moderate · ClinGen · Autosomal recessive · 2022
Where it sits
- A kind of