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Definition

A rare form of stomatocytosis characterized by episodic hemolytic anemia, cold-induced red cells cation leak, erratic hyperkalemia, neonatal hyperbilirubinemia, hepatosplenomegaly, cataracts, seizures, mental retardation, and movement disorder.

Acronym

SDCHCN

Synonyms

Cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly
GLUT1 deficiency syndrome with pseudohyperkalemia and hemolysis

Keywords

Hereditary hemolytic anemia
Epilepsy
Cataract
Mental retardation