Zimmermann-Laband syndrome 2
Findings
No curated finding names Zimmermann-Laband syndrome 2 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 ATP6V1B2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014646), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
23 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.
- AnonychiaHPOHP:0001798
- 2 of 2 reported patients
- Bifid nasal tipHPOHP:0000456
- 2 of 2 reported patients
- Gingival overgrowthHPOHP:0000212
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- Coarse facial featuresHPOHP:0000280
Show the remaining 11
- Long eyelashesHPOHP:0000527
- 1 of 2 reported patients
- MacroglossiaHPOHP:0000158
- 1 of 2 reported patients
- Prominent nasal septumHPOHP:0005322
- 1 of 2 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 1 of 2 reported patients
- Short neckHPOHP:0000470
- 1 of 2 reported patients
- Short statureHPOHP:0004322
- 1 of 2 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.
- ATP6V1B2HGNC:854
- Strong · G2P · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: Zimmermann-Laband syndrome 2
- Also called
- ATP6V1B2 Zimmermann-Laband syndromeZimmermann-Laband syndrome caused by mutation in ATP6V1B2Zimmermann-Laband syndrome type 2