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GTR Home > Conditions/Phenotypes > Short-rib thoracic dysplasia 13 with or without polydactyly

Short-rib thoracic dysplasia 13 with or without polydactyly

Summary

An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23. [from MONDO]

Available tests

28 tests are in the database for this condition.

Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CCDC100, JBTS31, SRTD13, CEP120
    Summary: centrosomal protein 120

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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