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Hoyeraal-Hreidarsson syndrome
Epidemiology:
- affects males
Pathology:
- multisystem disorder
Genetics:
- associated with defects in DKC1
Clinical manifestations:
- aplastic anemia
- immunodeficiency
- microcephaly
- cerebellar hypoplasia
- growth retardation
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 300240
References
OMIM :accession 300240