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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.
Kabuki syndrome (previously known as Kabuki-makeup syndrome (KMS) or Niikawa–Kuroki syndrome) is a rare congenital disorder of genetic origin. [1] [2] It affects multiple parts of the body, with varying symptoms and severity, although the most common is the characteristic facial appearance. [3] Kabuki syndrome affects roughly one in 32,000 ...
Rare genetic syndromes (1 C, 176 P) T. People with tetra-amelia syndrome (5 P) Pages in category "Rare syndromes" ... Familial Alzheimer-like prion disease;
There are few times when your doctor or physician will utter the phrase, "I don't know" to a patient, but when you're dealing with the rarest of diseases, then all bets are off. According to the ...
Pages in category "Rare genetic syndromes" The following 176 pages are in this category, out of 176 total. ... Autosomal dominant leukodystrophy with autonomic disease;
There are few times when your doctor or physician will utter the phrase, "I don't know" to a patient, but when you're dealing with the rarest of diseases, then all bets are off. According to the ...
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]
Orphanet is an online database with the goal of gathering, providing and improving knowledge on rare diseases and to improve the diagnosis, care and treatment of patients with rare diseases. By listing rare diseases, and maintaining a standard nomenclature of rare diseases (ORPHAcodes), Orphanet contributes to making them more visible in health ...
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