Zimmermann-Laband syndrome 3
MONDO:0032854Mondo
Findings
No curated finding names Zimmermann-Laband syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
30 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.
- Broad nasal tipHPOHP:0000455
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Small nailHPOHP:0001792
- 3 of 3 reported patients
- Coarse facial featuresHPOHP:0000280
- 2 of 3 reported patients
- Gingival overgrowthHPOHP:0000212
- 2 of 3 reported patients
- Patent ductus arteriosusHPOHP:0001643
- 2 of 3 reported patients · Neonatal onset
- SynophrysHPOHP:0000664
- 2 of 3 reported patients
- Absent distal phalanx of the 2nd toeHPOHP:0010432
- 1 of 3 reported patients
- Absent toenailHPOHP:0001802
- 1 of 3 reported patients
- Aplasia of the distal phalanx of the 5th toeHPOHP:0100380
- 1 of 3 reported patients
- Bifid uvulaHPOHP:0000193
- 1 of 3 reported patients
- Facial hypertrichosisHPOHP:0002219
- 1 of 3 reported patients
Show the remaining 18
- High palateHPOHP:0000218
- 1 of 3 reported patients
- HypertrichosisHPOHP:0000998
- 1 of 3 reported patients
- KyphosisHPOHP:0002808
- 1 of 3 reported patients
- Long halluxHPOHP:0001847
- 1 of 3 reported patients
- Long thumbHPOHP:0032524
- 1 of 3 reported patients
- Low anterior hairlineHPOHP:0000294
- 1 of 3 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.
- KCNN3HGNC:6292
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: Zimmermann-Laband syndrome 3
- Also called
- ZLS3