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Ziegler-Huang syndrome

Synonyms
BONE MARROW FAILURE SYNDROME 8

Summary

Ziegler-Huang syndrome (ZHS) is a bone marrow failure syndrome characterized by severe growth retardation responsive to growth hormone (GH1; 139250) treatment, testicular hypoplasia, and progressive bone marrow failure, with thrombocytopenia and macrocytosis developing in childhood (Huang et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of bone marrow failure syndromes, see BMFS1 (614675). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ZHS, ZNT7, ZnT-7, ZnTL2, SLC30A7
    Summary: solute carrier family 30 member 7

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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