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Hoyeraal-Hreidarsson syndrome

Disease definition

An X-linked syndromic intellectual disability considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

ORPHA:3322

Classification level: Disorder
  • Synonym(s):
    • Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D61.0
  • OMIM: 305000  613989  613990  615190  616353  616553
  • UMLS: C1846142
  • MeSH: C536068
  • GARD: 346
  • MedDRA: -
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