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GTR Home > Conditions/Phenotypes > Complex lethal osteochondrodysplasia

Summary

Complex lethal osteochondrodysplasia of the Symoens-Barnes-Gistelinck type is characterized by severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly (Symoens et al., 2015). [from OMIM]

Available tests

15 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: CMVFR, OCLSBG, TAPT1
    Summary: transmembrane anterior posterior transformation 1

Clinical features

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