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GTR Home > Conditions/Phenotypes > Leber congenital amaurosis 10

Leber congenital amaurosis 10

Synonyms
Amaurosis congenita of Leber, type 10; CEP290-Related Leber Congenital Amaurosis

Summary

Leber congenital amaurosis (LCA) is a severe retinal dystrophy, causing blindness or severe visual impairment at birth or during the first months of life (summary by den Hollander et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000). [from OMIM]

Available tests

105 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (105 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16, CEP290
    Summary: centrosomal protein 290

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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