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Up to: Hereditary neurological disease · Central nervous system malformation · Dyskeratosis congenita, X-linked

Hoyeraal-Hreidarsson syndrome

Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

3 trials tagged with this condition →

This condition has no sub-types.