Features include always present findings: Generalized hypotonia, Relative macrocephaly, Dolichocephaly, and Prominent occiput; and common findings: Micromelia, Long philtrum, Ventricular septal defect, and Short ribs and others. 27 total HPO annotations.

IFT81 encodes intraflagellar transport 81 (676 aa). Component of the intraflagellar transport (IFT) complex B: together with IFT74, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Highest expression in Testis (30.6 TPM) and Cervix Endocervix (23.8 TPM).

Short-rib thoracic dysplasia 19 with or without polydactyly has been associated with mutations in the IFT81 gene on chromosome 12.

IFT81 is classified as a druggable target with score 0.0.

Genetic testing for IFT81 is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for short-rib thoracic dysplasia 19 with or without polydactyly has been reported in the published literature.

Phenotype severity distribution: 4 always present features, 7 common features.

No clinical trials have been registered for short-rib thoracic dysplasia 19 with or without polydactyly.

200 publications have been identified in PubMed for short-rib thoracic dysplasia 19 with or without polydactyly. Kisho has analyzed 83 by research type. Research spans Case Report / Case Series (31%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (17%).