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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.
Download as PDF; Printable version; In other projects ... Chromosome 5q deletion syndrome; ... Nodding disease; Non-24-hour sleep–wake disorder; Noonan syndrome ...
Chromosome 5 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 5 spans about 182 million base pairs (the building blocks of DNA) and represents almost 6% of the total DNA in cells. Chromosome 5 is the 5th largest human chromosome, yet has one of the lowest gene densities.
Download as PDF; Printable version; In other projects ... This is a list of diseases starting with the letter "X". X. X, disease ... X. X, disease; X chromosome ...
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]
PURA syndrome, also known as PURA-related neurodevelopmental disorder, is a rare novel genetic disorder which is characterized by developmental and speech delay, neo-natal hypotonia, failure to thrive, excessive sleepiness, epilepsy, and other anomalies.
Download as PDF; Printable version; ... Caffeine-induced sleep disorder; Caffey disease; CAHMR syndrome; ... Chromosome 10 – Chromosome 12.
Category: Genetic disorders by system. ... Download as PDF; Printable version; In other projects ... Huntington's disease (1 C, 46 P) M.