Hoyeraal-Hreidarsson syndrome

SYD: 25




Hoyeraal-Hreidarsson syndrome

Description: Hoyeraal-Hreidarsson syndrome is a multisystem disorder affecting males and is characterized by aplastic anemia, immunodeficiency, microcephaly, cerebellar hypoplasia, and growth retardation. The disorder has been found to be caused by mutation in the DKC1 (300126) gene. Mutation in the same gene causes X-linked dyskeratosis congenita (DKC; 305000).


Synonyms:
There are no synonyms for this combination.

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Developmental anomalies

Listed in the combination's profile :


There are no developmental anomalies for this combination.

Observed in MDB cases:


There are no developmental anomalies for this combination.
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Associated malformative diseases
Associated genes
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