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GTR Home > Conditions/Phenotypes > Complex lethal osteochondrodysplasia

Complex lethal osteochondrodysplasia

Synonyms
Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

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.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

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

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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