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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.
Babinski–Nageotte syndrome; Baboon syndrome; Baggio–Yoshinari syndrome; Baller–Gerold syndrome; Bamforth–Lazarus syndrome; Bangstad syndrome; Bannayan–Riley–Ruvalcaba syndrome
There are well over 6,000 known genetic disorders, [4] and new genetic disorders are constantly being described in medical literature. [5] More than 600 genetic disorders are treatable. [6] Around 1 in 50 people are affected by a known single-gene disorder, while around 1 in 263 are affected by a chromosomal disorder. [7]
Rare genetic syndromes (1 C, 176 P) Pages in category "Genetic syndromes" The following 164 pages are in this category, out of 164 total.
Rare genetic syndromes (1 C, 179 P) T. People with tetra-amelia syndrome (5 P) Pages in category "Rare syndromes" The following 200 pages are in this category, out of ...
Aicardi–Goutières syndrome; Alternating hemiplegia; Alternating hemiplegia of childhood; Amaurosis congenita, cone-rod type, with congenital hypertrichosis; Ampola syndrome; Aniridia renal agenesis psychomotor retardation; Aprosencephaly cerebellar dysgenesis; Arginine:glycine amidinotransferase deficiency; Aromatic L-amino acid ...
List of congenital disorders. 1 language. ... List of ICD-9 codes 740–759: congenital anomalies; Rare disease This page was ...
Chromosomal deletion syndromes result from deletion of parts of chromosomes. Depending on the location, size, and whom the deletion is inherited from, there are a few known different variations of chromosome deletions. Chromosomal deletion syndromes typically involve larger deletions that are visible using karyotyping techniques.