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Results 1 - 10 of 1,022 for Cases
  1. Pyridoxine-dependent epilepsy 
    ... involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures ... 000 to 700,000 individuals. At least 100 cases have been reported worldwide. Mutations in the ALDH7A1 ...
    https://medlineplus.gov/.../condition/pyridoxine-dependent-epilepsy - Genetics
  2. Keratoderma with woolly hair 
    ... affect the skin and hair and in many cases increase the risk of potentially life-threatening heart ... coarse, dry, fine, and tightly curled. In some cases, the hair is also sparse. The woolly hair ...
    https://medlineplus.gov/.../condition/keratoderma-with-woolly-hair - Genetics
  3. Wilms tumor 
    ... cancer that primarily develops in children. Nearly all cases of Wilms tumor are diagnosed before the age ... other parts of the body (metastasize). In rare cases, Wilms tumor does not involve the kidneys and ...
    https://medlineplus.gov/genetics/condition/wilms-tumor - Genetics
  4. Ovarian cancer 
    ... cells are produced. In about 90 percent of cases, ovarian cancer occurs after age 40, and most cases occur after age 60.The most common form ... collectively by experts.In about 10 percent of cases, ovarian cancer develops not in epithelial cells but ...
    https://medlineplus.gov/genetics/condition/ovarian-cancer - Genetics
  5. Congenital hypothyroidism 
    ... function properly. In 80 to 85 percent of cases, the thyroid gland is absent, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder ...
    https://medlineplus.gov/genetics/condition/congenital-hypothyroidism - Genetics
  6. Parkinson's disease 
    ... and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred ... 100,000 people, and about 60,000 new cases are identified each year.The late-onset form ...
    https://medlineplus.gov/genetics/condition/parkinsons-disease - Genetics
  7. Parathyroid cancer 
    ... into the blood.In about 90 percent of cases, the early signs of parathyroid cancer are high ... and calcium (hypercalcemia) in the blood. In these cases, the cancer is described as hormonally functional because ...
    https://medlineplus.gov/genetics/condition/parathyroid-cancer - Genetics
  8. Swyer syndrome 
    ... may account for up to 18 percent of cases. The MAP3K1 gene provides instructions for making a ... NCBI Gene: CBX2 DHX37 DMRT1 FTHL17 ZFPM2 Most cases of Swyer syndrome are not inherited; they occur ...
    https://medlineplus.gov/genetics/condition/swyer-syndrome - Genetics
  9. Amyotrophic lateral sclerosis 
    ... 100,000 individuals. Only a small percentage of cases have a known genetic cause.Among the Chamorro ... mutations each account for about 5 percent of cases. The other genes that have been associated with ...
    https://medlineplus.gov/.../condition/amyotrophic-lateral-sclerosis - Genetics
  10. Charcot-Marie-Tooth disease 
    ... weakness or other problems which, in very rare cases, can be life-threatening. In most affected individuals, ... occasionally feel aching or burning sensations. In rare cases, affected individuals have loss of vision or gradual ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
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