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ENStomatin-Deficient Cryohydrocytosis with Neurologic Defects (SDCHCN)
Alias:
Hereditary Cryohydrocytosis with Reduced Stomatin
Glut1 Deficiency Syndrome with Pseudohyperkalemia and Hemolysis
Sdchcn
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
Cryohydrocytosis, Stomatin-Deficient, with Neurologic Defects
Stomatin-Deficient Cryohydrocytosis
Hereditary Cryohydrocytosis Type 2
Chc Type 2
Sdchc
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Stomatin-Deficient Cryohydrocytosis with Neurologic Defects, also known as hereditary cryohydrocytosis with reduced stomatin, is related to cryohydrocytosis and cataract. An important gene associated with Stomatin-Deficient Cryohydrocytosis with Neurologic Defects is SLC2A1 (Solute Carrier Family 2 Member 1). Affiliated tissues include brain, and related phenotypes are intellectual disability and seizure
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MALACARDS
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