Hoyeraal-Hreidarsson syndrom
Engelsk navn: Hoyeraal-Hreidarsson syndrome
Engelske synonym: Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
Definisjon
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.
Fra Orphanet
ORPHA: 3322
Klassifiseringsnivå: Disorder
ICD-10: D61.0
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
