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GTR Home > Conditions/Phenotypes > Craniolenticulosutural dysplasia

Craniolenticulosutural dysplasia

Synonyms
BOYADJIEV-JABS SYNDROME
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Craniolenticulosutural dysplasia is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects (summary by Boyadjiev et al., 2011). [from OMIM]

Available tests

10 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CLSD, hSec23A, SEC23A
    Summary: SEC23 homolog A, COPII coat complex component

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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