Synonyms: CHC type 2 | Hereditary cryohydrocytosis type 2 | Stomatin-deficient cryohydrocytosis | sdCHC
A rare hemolytic anemia characterized by combination of neurologic features such as psychomotor delay seizures variable movement disorders and hemolytic anemia with stomatocytosis resulting in cation-leaky erythrocytes pseudohyperkalemia hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
Newly diagnosed with
Hereditary cryohydrocytosis with reduced stomatin?
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Clinical Trials
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