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GTR Home > Conditions/Phenotypes > Visual impairment and progressive phthisis bulbi

Visual impairment and progressive phthisis bulbi

Summary

Visual impairment and progressive phthisis bulbi is characterized by poor vision at birth, with development of bilateral phthisis by adulthood (Ansar et al., 2018). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CTAK1, KP78, PAR1A, Par-1a, VIPB, MARK3
    Summary: microtubule affinity regulating kinase 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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