Name | Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly |
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Synonyms | CRYOHYDROCYTOSIS, STOMATIN-DEFICIENT, WITH MENTAL RETARDATION, SEIZURES, CATARACTS, AND MASSIVE HEPATOSPLENOMEGALY | GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS | SDCHCN | Stomatin-Deficient Cryohydrocytosis with Neurologic Defects |
Categories | Digestive system disease | Eye disease | Mental disorder | Metabolic disease | Nervous system disease | Pathology (anatomical condition) | Signs and symptoms |
MeSH® ID | C563840 |
OMIM® ID | 608885 |
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Diseases
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Digestive System Diseases
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2. |
Diseases
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Nervous System Diseases
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3. |
Diseases
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Nervous System Diseases
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4. |
Diseases
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Eye Diseases
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Diseases
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Nutritional and Metabolic Diseases
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Diseases
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Pathological Conditions, Signs and Symptoms
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7. |
Diseases
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Pathological Conditions, Signs and Symptoms
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8. |
Diseases
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Pathological Conditions, Signs and Symptoms
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9. |
Diseases
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Pathological Conditions, Signs and Symptoms
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10. |
Diseases
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Mental Disorders
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