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GTR Home > Conditions/Phenotypes > Porencephaly-microcephaly-bilateral congenital cataract syndrome

Porencephaly-microcephaly-bilateral congenital cataract syndrome

Synonyms
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

HDBSCC is an autosomal recessive disorder with a distinctive phenotype comprising hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Affected individuals have a catastrophic neurologic clinical course resulting in death in infancy (summary by Akawi et al., 2013). [from OMIM]

Available tests

20 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (20 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: JAM-2, JAM-3, JAM-C, JAMC, JAM3
    Summary: junctional adhesion molecule 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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