Genetic diseases

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Can you name the Genetic diseases?

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SymptomsDisease name
Adenomatous polyps appear in colon after puberty. Caused by deletion of APC gene on chromosome 5.
Depression, progressive dementia, choreiform movements.
Long extremities, hyperextensive joints, cystic medial necrosis of aorta, floppy mitral valve.
Cardiac rhabdomyomas, ash leaf spots, mental retardation, seizures.
Recurrent pulmonary infections, chroninc bronchitis, pancreatic insufficiency.
Weakness of pelvic girdle muscles, pseudohypertrophy of calf muscles, cardiac myopathy.
Bilateral enlargement of kidneys, flank pain, hematuria, hypertension, renal failure, berry aneurysms, mitral valve prolapse.
Flat facies, mental retardation, simian crease, duodenal atresia.
Mental retardation, rocker-bottom feet, small jaw, clenched hands, heart disease.
Mental retardation, rocker-bottom feet, cleft lip, cleft palate, holoprosencephaly, polydactyly, heart disease.
SymptomsDisease name
Increased glycogen in muscles, muscle cramps, myoglobinuria after exercise.
Progressive cortical degeneration, developmental delay, cherry-red spot on macula, onion-skinning of lysosomes.
Short Statue, webbed neck, coarctation of aorta, streak ovaries.
Mental retardation, seizures, feeding prblems, sweet-smelling urine.
Hepatosplenomegaly, fibrillar macrophages in liver, spleen, and bone marrow.
Easily bruises, bleeds into joint capsule.
Liver cirrhosis, panacinar emphysema.
Deafness, weak bones, blue sclera.
Photosensitive skin lesions, hyperpigmentation, fragile skin, hypertrichosis.
Progressive paralysis beginning in hands between the ages of 40-60.

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Created May 26, 2010ReportNominate
Tags:disease, genetic, symptom