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Query OMIM entry list
608885
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CRYOHYDROCYTOSIS, STOMATIN-DEFICIENT, WITH MENTAL RETARDATION, SEIZURES, CATARACTS, AND MASSIVE HEPATOSPLENOMEGALY
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Nervous System Diseases
Neurologic Manifestations
Dyskinesias
Ataxia
Neurobehavioral Manifestations
Intellectual Disability
Eye Diseases
Eyelid Diseases
Blepharoptosis
Lens Diseases
Cataract
Hemic and Lymphatic Diseases
Hematologic Diseases
Anemia
Anemia, Hemolytic
Anemia, Hemolytic, Congenital
Anemia, Hemolytic, Congenital Nonspherocytic
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Genetic Diseases, Inborn
Anemia, Hemolytic, Congenital
Anemia, Hemolytic, Congenital Nonspherocytic
Metabolism, Inborn Errors
Nutritional and Metabolic Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Pathological Conditions, Signs and Symptoms
Pathological Conditions, Anatomical
Hypertrophy
Splenomegaly
Pathologic Processes
Disease
Syndrome
Growth Disorders
Hemolysis
Signs and Symptoms
Neurologic Manifestations
Dyskinesias
Ataxia
Neurobehavioral Manifestations
Intellectual Disability
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