disease has major feature dyskeratosis congenita, X-linked Hoyeraal-Hreidarsson syndrome https://github.com/monarch-initiative/mondo/issues/8583 Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia icd11.foundation:340127408 progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome Reason of obsoletion: duplicate. This will be merged with MONDO:0010584 dyskeratosis congenita, X-linked 2025-04-01 MESH:C536068 SCTID:707276009 UMLS:C1846142 Hoyeraal Hreidarsson syndrome Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia. MEDGEN:337518 GARD:0000346 Orphanet:3322 MONDO:0018045 central nervous system malformation hereditary neurological disease