Features include always present findings: Small nail, Broad nasal tip, and Global developmental delay; and common findings: Triphalangeal thumb, Coarse facial features, Hypertrichosis, and Long hallux and others. 30 total HPO annotations.

KCNN3 encodes potassium calcium-activated channel subfamily N member 3 (731 aa). Small conductance calcium-activated potassium channel that mediates the voltage-independent transmembrane transfer of potassium across the cell membrane through a constitutive interaction with calmodulin which binds the intracellular calcium allowing its opening. Highest expression in Cells EBV-transformed lymphocytes (19.3 TPM) and Brain Nucleus accumbens basal ganglia (11.1 TPM).

Zimmermann-Laband syndrome 3 is associated with mutations in the KCNN3 gene on chromosome 1.

KCNN3 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 3.3.

Genetic testing for KCNN3 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 always present features, 20 common features.

No clinical trials have been registered for Zimmermann-Laband syndrome 3.

5 publications have been identified in PubMed for Zimmermann-Laband syndrome 3. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (40%), and Review / Meta-Analysis (20%).

Recent Publications

• Sechi S (2025). [PMID: 41040851](https://pubmed.ncbi.nlm.nih.gov/41040851/). *Brain Commun*. [Basic Science / Preclinical]

• Davenport M (2025). [PMID: 40519534](https://pubmed.ncbi.nlm.nih.gov/40519534/). *World J Pediatr Surg*. [Review / Meta-Analysis]

• Carpentieri G (2024). [PMID: 39210597](https://pubmed.ncbi.nlm.nih.gov/39210597/). *HGG Adv*. [Case Report / Case Series]

• Chen D (2024). [PMID: 38372889](https://pubmed.ncbi.nlm.nih.gov/38372889/). *Hum Cell*. [Basic Science / Preclinical]

• Gu Y (2024). [PMID: 39087232](https://pubmed.ncbi.nlm.nih.gov/39087232/). *J Clin Pediatr Dent*. [Case Report / Case Series]