Hereditary cryohydrocytosis with reduced stomatin

MONDO:0012143

Also 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

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