loading...| Preferred Name |
Hoyeraal-Hreidarsson syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_3322 |
| alternative_term |
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome |
| 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. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3322 |
| has_age_of_onset |
Neonatal Infancy |
| has_inheritance |
X-linked recessive Autosomal recessive Autosomal dominant |
| hasDbXref |
MeSH:C536068 ICD-10:D61.0 OMIM:305000 OMIM:615190 OMIM:616553 OMIM:616353 OMIM:613989 UMLS:C1846142 ICD-11:3A70.0 OMIM:613990 |
| label |
Hoyeraal-Hreidarsson syndrome |
| notation |
ORPHA:3322 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_269567 http://www.orpha.net/ORDO/Orphanet_68383 http://www.orpha.net/ORDO/Orphanet_331217 |
| prefixIRI |
ORDO:Orphanet_3322 |
| prefLabel |
Hoyeraal-Hreidarsson syndrome |
| present_in |
Worldwide AND has_cases/families_value : 33.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_269567 http://www.orpha.net/ORDO/Orphanet_68383 http://www.orpha.net/ORDO/Orphanet_331217 |
| subClassOf |