Features include common findings: Short stature, Brachydactyly, Postaxial hand polydactyly, and Acetabular spurs and others. 10 total HPO annotations.

DYNLT2B encodes dynein light chain Tctex-type 2B (142 aa). Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 2 complex (dynein-2 complex), a motor protein complex that drives the movement of cargos along microtubules within cilia and flagella in concert with the intraflagellar transport (IFT) system. Highest expression in Testis (48.9 TPM) and Brain Frontal Cortex BA9 (24.7 TPM).

Short-rib thoracic dysplasia 17 with or without polydactyly is associated with mutations in the DYNLT2B gene on chromosome 3.

DYNLT2B is classified as a druggable target with score 0.0.

Genetic testing for DYNLT2B is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for short-rib thoracic dysplasia 17 with or without polydactyly has been reported in the published literature.

Phenotype severity distribution: 9 common features.

No clinical trials have been registered for short-rib thoracic dysplasia 17 with or without polydactyly.

200 publications have been identified in PubMed for short-rib thoracic dysplasia 17 with or without polydactyly. Research spans Case Report / Case Series (39%), Basic Science / Preclinical (21%), and Epidemiology / Natural History (18%).