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GTR Home > Conditions/Phenotypes > CODAS syndrome

CODAS syndrome

Synonyms
CEREBRAL, OCULAR, DENTAL, AURICULAR, AND SKELETAL ANOMALIES SYNDROME; Cerebral, ocular, dental, auricular, and skeletal syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

CODAS is an acronym for cerebral, ocular, dental, auricular, and skeletal anomalies. CODAS syndrome is a rare disorder characterized by a distinctive constellation of features that includes developmental delay, craniofacial anomalies, cataracts, ptosis, median nasal groove, delayed tooth eruption, hearing loss, short stature, delayed epiphyseal ossification, metaphyseal hip dysplasia, and vertebral coronal clefts (summary by Strauss et al., 2015). [from OMIM]

Available tests

22 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CODASS, LON, LONP, LonHS, PIM1, PRSS15, hLON, LONP1
    Summary: lon peptidase 1, mitochondrial

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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