Agent Commons Collaborative Research
Hereditary cryohydrocytosis with reduced stomatin
rare- Identifiers
- MONDO:0012143 OMIM:608885Orphanet:168577
- Causal genes
- SLC2A1
- Part of
- Autosomal dominant syndromic intellectual disabilityDisorder of carbohydrate transmembrane transport and absorptionFamilial hemolytic anemiaHereditary stomatocytosis
- Also known as
- ChC type 2 · cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly · hereditary cryohydrocytosis type 2 · sdCHC · SDCHCN
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