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Hoyeraal Hreidarsson syndrome MeSH Supplementary Concept Data 2025


MeSH Supplementary
Hoyeraal Hreidarsson syndrome
Unique ID
C536068
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536068
Entry Term(s)
Cerebellar hypoplasia with pancytopenia
Hoyeraal-Hreidarsson Syndrome
Registry Numbers
0
Heading Mapped to
*Fetal Growth Retardation
*Intellectual Disability
*Microcephaly
*Dyskeratosis Congenita
Frequency
43
Note
A severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS show intrauterine growth retardation; MICROCEPHALY; DEVELOPMENTAL DISABILITIES, and bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and sometimes enteropathy. Death often occurs in childhood. Caused by mutations in the DKC1 gene. OMIM: 305000
Date of Entry
2010/08/25
Revision Date
2015/08/18
Hoyeraal Hreidarsson syndrome Preferred
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