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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, 176 P) T. People with tetra-amelia syndrome (5 P) Pages in category "Rare syndromes" The following 200 pages are in this category, out of ...
CDK13-related disorder; Cerebro-costo-mandibular syndrome; CHAMP1-associated intellectual disability syndrome; Chromosome 5q deletion syndrome; Chudley–Mccullough syndrome; Cleft palate short stature vertebral anomalies syndrome; CLOVES syndrome; COACH syndrome; Cochleosaccular degeneration with progressive cataracts; Coffin–Lowry syndrome
List of genetic disorders; List of OMIM disorder codes; 0–9. 2q37 monosomy; 3-Hydroxyisobutyryl-CoA deacylase deficiency; ... ZC4H2-Associated Rare Disorders
Trisomy 21 – Down syndrome, an example of a polysomy at chromosome 21. Polysomy is a condition found in many species, including fungi, plants, insects, and mammals, in which an organism has at least one more chromosome than normal, i.e., there may be three or more copies of the chromosome rather than the expected two copies. [1]
CDKL5 deficiency disorder; Cenani–Lenz syndactylism; Center of expertise for rare diseases; Cerebral creatine deficiency; Cerebroretinal microangiopathy with calcifications and cysts; Cerebrotendinous xanthomatosis; Cherubism; Childhood dementia; Childhood granulomatous periorificial dermatitis; CHIME syndrome; Chorea-acanthocytosis ...
This man suffered from a rare genetic disorder that made bark-like warts grow on his skin for more than two decades. ... a rare skin disorder, for more than 20 years. ... or human papillomavirus, ...
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 ]
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