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The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Rare genetic syndromes (1 C, 179 P) T. People with tetra-amelia syndrome (5 P) Pages in category "Rare syndromes" ... Familial Alzheimer-like prion disease;
Pages in category "Rare genetic syndromes" The following 176 pages are in this category, out of 176 total. ... Autosomal dominant leukodystrophy with autonomic disease;
Orphan drugs are medications targeting orphan diseases. Most rare diseases are genetic in origin and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. [1]
A rare disease is technically defined (in the European Union) as a disease that is found in fewer than 5 people per every 10,000 people. ...
List of congenital disorders. 1 language. ... Rare disease This page was last edited on 28 September 2024, at 13:01 (UTC). Text is available under the Creative ...