KCND2-related neurodevelopmental disorder with or without seizures
Findings
No curated finding names KCND2-related neurodevelopmental disorder with or without seizures yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A neurodevelopmental disorder caused by variation in the KCND2 gene. This disorder is characterized by early-onset global developmental delay with impaired motor, speech and cognitive development. Patients often present muscle hypotonia, and less frequently, developmental epileptic encephalopathy, visual impairment and physical dysmorphisms.
Definition from the Mondo Disease Ontology (MONDO:1040003), read 2026-09-29. CC BY 4.0.
Genes
1 gene
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.
- KCND2HGNC:6238
- Moderate · G2P · Autosomal dominant · 2024
- Moderate · ClinGen · Autosomal dominant · 2026