| Symptoms | Disease 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. | |
| | Symptoms | Disease 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. | |
|