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.
MONDO:0010584
dyskeratosis congenita, X-linked
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MONDO:0020022
central nervous system malformation
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MONDO:0100545
hereditary neurological disease
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Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia
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Hoyeraal Hreidarsson syndrome
related
progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
exact