Features include always present findings: Narrow chest, Short ribs, Short long bone, and Preaxial polydactyly and others; and common findings: Fibular hypoplasia, Narrow greater sciatic notch, Relative macrocephaly, and Lobulated tongue and others. 45 total HPO annotations.

CEP120 encodes centrosomal protein 120 (986 aa). Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Highest expression in Ovary (23.9 TPM) and Brain Cerebellar Hemisphere (20.8 TPM).

Short-rib thoracic dysplasia 13 with or without polydactyly is associated with mutations in the CEP120 gene on chromosome 5.

CEP120 is classified as a druggable target with score 0.0.

Genetic testing for CEP120 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for short-rib thoracic dysplasia 13 with or without polydactyly has been reported in the published literature.

Phenotype severity distribution: 5 always present features, 13 common features.

No clinical trials have been registered for short-rib thoracic dysplasia 13 with or without polydactyly.

201 publications have been identified in PubMed for short-rib thoracic dysplasia 13 with or without polydactyly. Kisho has analyzed 132 by research type. Research spans Case Report / Case Series (45%), Basic Science / Preclinical (18%), and Epidemiology / Natural History (16%).