/hereditary cryohydrocytosis with reduced stomatin

hereditary cryohydrocytosis with reduced stomatin

Rare Disease

MONDO:0012143

Also Known As

ChC type 2hereditary cryohydrocytosis type 2sdCHCstomatin-deficient cryohydrocytosisGLUT1 deficiency syndrome with pseudohyperkalemia and hemolysisSDCHCNcryohydrocytosis, stomatin-deficient, with intellectual disability, seizures, cataracts, and massive hepatosplenomegalycryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegalystomatin-deficient cryohydrocytosis with neurologic defects