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Partial or complete absence of the part of the brain located between the two cerebellar hemispheres (cerebellar vermis).
Mental retardation, characteristic facial features, Simian crease in hand.
Syndrome caused by the deletion of a small piece of chromosome 22.
Defect in excretion of conjugated bilirubin -> recurrent mild jaundice. Buildup of direct builirubin in blood
Ventricular-septal defect, pulmonary hypertension and cyanosis.
Ehlers-danlos syndrome (EDS)
Group of inherited disorders that affect the connective tissues (primarily the skin, joints and blood vessel walls).
Disease of the proximal renal tubules of the kidney in which glucose, amino acids, uric acid, phosphate and bicarbonate are passed into the urine, instead of being reabsorbed.
Combination of rheumatoid arthritis, splenomegaly and neutropenia
Right upper quadrant abdominal pain aggravated by breathing, coughing or movement, which is referred to the right shoulder.
Fetal alcohol syndrome
Mental and physical defects that can develop in a fetus in association with high levels of alcohol consumption during pregnancy.