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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.
Heart disorders (Congenital heart defects) Hemifacial microsomia; Holoprosencephaly; Huntington's disease; Hirschsprung's disease, or congenital aganglionic megacolon; Hypertrichosis; Hypoglossia; Hypomelanism or hypomelanosis (albinism) Hypospadias; Haemophilia; Heterochromia; Hemochromatosis
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]
Babinski–Nageotte syndrome; Baboon syndrome; Baggio–Yoshinari syndrome; Baller–Gerold syndrome; Bamforth–Lazarus syndrome; Bangstad syndrome; Bannayan–Riley–Ruvalcaba syndrome
The following conditions and disorders were recommended as a "core panel" by the 2005 report of the American College of Medical Genetics (ACMG). [1] The incidences reported below are from the full report, though the rates may vary in different populations. [2] Blood cell disorders. Sickle cell anemia (Hb SS) > 1 in 5,000; among African ...
Generally, diseases outlined within the ICD-10 codes Q00-Q99 within Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities should be included in this category. The main article for this category is Congenital disorder .
Five to 10% of children born with trisomy 18 live past their first year, ... This test takes a small sample of cells from the placenta to look for genetic conditions.
Disability-adjusted life year for childhood-cluster diseases per 100,000 inhabitants. These include pertussis , poliomyelitis , diphtheria , measles , and tetanus . no data
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