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
stomatin-deficient cryohydrocytosis with neurologic defects