Features include always present findings: Hyperkalemia, Papilledema, Cortical sclerosis, and Elevated circulating alkaline phosphatase concentration and others.

SLC4A2 function has not been fully characterized.

Osteopetrosis, autosomal recessive 9 is associated with mutations in the SLC4A2 gene on chromosome 7.

Genetic testing for SLC4A2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 14 always present features.

No clinical trials have been registered for osteopetrosis, autosomal recessive 9.

5 publications have been identified in PubMed for osteopetrosis, autosomal recessive 9. Research spans Case Report / Case Series (80%) and Other (20%).

Recent Publications

• Hou F (2025). [PMID: 41305810](https://pubmed.ncbi.nlm.nih.gov/41305810/). *Medicine (Baltimore)*. [Case Report / Case Series]

• Laridi A (2025). [PMID: 40528923](https://pubmed.ncbi.nlm.nih.gov/40528923/). *Radiol Case Rep*. [Case Report / Case Series]

• Jacinto J (2025). [PMID: 40999323](https://pubmed.ncbi.nlm.nih.gov/40999323/). *Genet Sel Evol*. [Other]

• Shamsian BS (2024). [PMID: 38655726](https://pubmed.ncbi.nlm.nih.gov/38655726/). *Pediatr Transplant*. [Case Report / Case Series]

• Jacinto JGP (2024). [PMID: 39460958](https://pubmed.ncbi.nlm.nih.gov/39460958/). *J Vet Intern Med*. [Case Report / Case Series]