KCNH1 associated disorder
Findings
No curated finding names KCNH1 associated disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently.
Definition from the Mondo Disease Ontology (MONDO:0100485), 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.
- KCNH1HGNC:6250
- Definitive · ClinGen · Autosomal dominant · 2022
- Strong · Illumina · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- Narrower terms (2)
Other names
1 name
Resolves to: KCNH1 associated disorder
- Also called
- KCNH1 related disorder