GTR Home > Conditions/Phenotypes > Hoyeraal Hreidarsson syndrome

Summary

Hoyeraal-Hreidarsson syndrome is a multisystem disorder affecting males and is characterized by aplastic anemia, immunodeficiency, microcephaly, cerebellar hypoplasia, and growth retardation. [from OMIM]

Available tests

9 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: CBF5, DKC, DKCX, NAP57, NOLA4, XAP101, DKC1
    Summary: dyskerin pseudouridine synthase 1

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