ORPHA:3322
Hoyeraal-Hreidarsson syndrome
Also called Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
- Body system
- Immunological diseases
- Inheritance pattern
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:3322 is classified under "Immunological diseases" in the Orphanet nomenclature.
Common signs
- Microcephaly
- Intellectual disability
- Global developmental delay
- Cerebellar hypoplasia
- Failure to thrive
- Intrauterine growth retardation