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GTR Home > Conditions/Phenotypes > Kahrizi syndrome

Kahrizi syndrome

Synonyms
MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE

Summary

Kahrizi syndrome is an autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features (summary by Kahrizi et al., 2009). See also congenital disorder of glycosylation type Iq (CDG1Q; 612379), an allelic disorder with overlapping features. [from OMIM]

Available tests

32 tests are in the database for this condition.

Clinical tests (32 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDG1P, CDG1Q, KRIZI, S5AR, S5AR 3, SRD5A2L, SRD5A2L1, SRD5A3
    Summary: steroid 5 alpha-reductase 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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