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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

7 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Anemia (233) Metabolic disease (233) Nervous system disorder (231) Hereditary disease (176) Hematologic disorder (170) Neurodevelopmental disorder (147) Intellectual disability (133) Inborn errors of metabolism (45) Syndromic disease (25)
Trials to join now! 3 Not yet recruiting 1 Not yet finished but already full! 1 Completed 2
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  • Could a painless light sensor replace the needle for anemia screening?

    Diagnosis Not yet recruiting

    This study tests whether a non-invasive device that uses light to measure hemoglobin through the skin can accurately detect anemia. Researchers will compare its readings with standard blood tests in 150 adults in Jakarta. If the device proves reliable, it could offer a quick, pai…

    Sponsor: Tarumanagara University • Aim: Diagnosis

    Last updated Jul 17, 2026 00:00 UTC

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