Features include always present findings: Patellar dislocation, Cleft palate, and Micrognathia; and common findings: Hearing loss (hearing impairment), Brachydactyly, Short stature, and Short metacarpal and others. 28 total HPO annotations.

BPNT2 encodes 3'(2'), 5'-bisphosphate nucleotidase 2 (359 aa). Exhibits 3'-nucleotidase activity toward adenosine 3',5'-bisphosphate (PAP), namely hydrolyzes adenosine 3',5'-bisphosphate into adenosine 5'-monophosphate (AMP) and a phosphate. Highest expression in Artery Tibial (62.8 TPM) and Cells Cultured fibroblasts (56.1 TPM).

Chondrodysplasia with joint dislocations, gPAPP type has been associated with mutations in the BPNT2 gene on chromosome 8.

BPNT2 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for BPNT2 is available. Testing is considered supportive for diagnosis.

Phenotype severity distribution: 3 always present features, 9 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).