complex neurodevelopmental disorder with or without congenital anomalies
Findings
No curated finding names complex neurodevelopmental disorder with or without congenital anomalies 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), in addition to one or more structural or functional anomaly(ies) that develops prenatally.
Definition from the Mondo Disease Ontology (MONDO:0100465), read 2026-09-29. CC BY 4.0.
Genes
6 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.
- MYH10HGNC:7568
- Definitive · ClinGen · Autosomal dominant · 2024
- Strong · PanelApp Australia · Autosomal dominant · 2025
- REREHGNC:9965
- Definitive · ClinGen · Autosomal dominant · 2023
- TRRAPHGNC:12347
- Definitive · ClinGen · Autosomal dominant · 2022
- MED16HGNC:17556
- Moderate · Ambry Genetics · Autosomal recessive · 2025
- VPS52HGNC:10518
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- KIF4AHGNC:13339
- Limited · ClinGen · X-linked · 2024
Where it sits
- A kind of