Features include always present findings: Short stature, Slender long bone, Bowing of the long bones, and Recurrent fractures and others; and common findings: Pseudoarthrosis, Hearing loss (hearing impairment), Decreased circulating osteocalcin level, and Delayed ability to walk and others. 17 total HPO annotations.

CCDC134 encodes coiled-coil domain containing 134 (229 aa). Molecular adapter required to prevent protein hyperglycosylation of HSP90B1: during translation, associates with nascent HSP90B1 and the STT3A catalytic component of the OST-A complex and tethers them to a specialized translocon that forms a microenvironment for HSP90B1 folding. Highest expression in Testis (14.7 TPM) and Cells EBV-transformed lymphocytes (14.6 TPM).

Osteogenesis imperfecta, IIA 22 is associated with mutations in the CCDC134 gene on chromosome 22.

CCDC134 is classified as a druggable target with score 0.0.

Genetic testing for CCDC134 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 7 always present features, 7 common features.