Features include always present findings: Retinal pigment epithelial mottling, Brachydactyly, Hypermetropia, and Short metacarpal and others. 32 total HPO annotations.

IFT52 encodes intraflagellar transport 52 (437 aa). Involved in ciliogenesis as part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia. Highest expression in Ovary (44.8 TPM) and Cervix Ectocervix (43.8 TPM).

Short-rib thoracic dysplasia 16 with or without polydactyly has been associated with mutations in the IFT52 gene on chromosome 20.

The IFT52 protein participates in Anchoring of the basal body to the plasma membrane pathway.

IFT52 is classified as a druggable target with score 0.0.

Genetic testing for IFT52 is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for short-rib thoracic dysplasia 16 with or without polydactyly has been reported in the published literature.

Phenotype severity distribution: 29 always present features.

No clinical trials have been registered for short-rib thoracic dysplasia 16 with or without polydactyly.

200 publications have been identified in PubMed for short-rib thoracic dysplasia 16 with or without polydactyly. Research spans Case Report / Case Series (38%), Epidemiology / Natural History (23%), and Basic Science / Preclinical (16%).