Hereditary cryohydrocytosis with reduced stomatin
MONDO:0012143Also known as: ChC type 2, hereditary cryohydrocytosis type 2, sdCHC, stomatin-deficient cryohydrocytosis, GLUT1 deficiency syndrome with pseudohyperkalemia and hemolysis, SDCHCN, cryohydrocytosis, stomatin-deficient, with intellectual disability, seizures, cataracts, and massive hepatosplenomegaly, cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly
9 clinical trials for this condition and its sub-types, 0 tagged with Hereditary cryohydrocytosis with reduced stomatin itself.
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