Zimmermann-Laband syndrome 1
Findings
No curated finding names Zimmermann-Laband syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene.
Definition from the Mondo Disease Ontology (MONDO:0024526), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- SeizureHPOHP:0001250
- 6 of 6 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 6 of 6 reported patients
- Gingival overgrowthHPOHP:0000212
- 5 of 6 reported patients
- ScoliosisHPOHP:0002650
- 4 of 6 reported patients
- AnonychiaHPOHP:0001798
- 3 of 5 reported patients
- Short distal phalanx of fingerHPOHP:0009882
- 3 of 5 reported patients
- Short distal phalanx of toeHPOHP:0001857
Show the remaining 17
- Small nailHPOHP:0001792
- 2 of 6 reported patients
- Thick eyebrowHPOHP:0000574
- 2 of 6 reported patients
- Thick hairHPOHP:0100874
- 2 of 6 reported patients
- Thick vermilion borderHPOHP:0012471
- 2 of 6 reported patients
- Broad foreheadHPOHP:0000337
- 1 of 6 reported patients
- Broad nasal tipHPOHP:0000455
- 1 of 6 reported patients
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
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
4 names
Resolves to: Zimmermann-Laband syndrome 1
- Also called
- fibromatosis, gingival, with abnormal fingers, fingernails, Nose, and ears, and splenomegalyKCNH1 Zimmermann-Laband syndromeZimmermann-Laband syndrome caused by mutation in KCNH1ZLS1