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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 variant (genetics) RAS-associated autoimmune leukoproliferative disorder; Reparagen; Retinal cone dystrophy 3B; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa; Ring chromosome 18; RNA-dominant disease
Babinski–Nageotte syndrome; Baboon syndrome; Baggio–Yoshinari syndrome; Baller–Gerold syndrome; Bamforth–Lazarus syndrome; Bangstad syndrome; Bannayan–Riley–Ruvalcaba syndrome
Due to the wide range of genetic disorders that are known, diagnosis is widely varied and dependent of the disorder. Most genetic disorders are diagnosed pre-birth, at birth, or during early childhood however some, such as Huntington's disease, can escape detection until the patient begins exhibiting symptoms well into adulthood. [35] The basic ...
List of disorders. Add languages. Add links. Article; ... Download as PDF; Printable version; ... Translocation chromosome disorders; Triplet repeat genetic disorders;
Category: Genetic disorders by inheritance. ... Download as PDF; Printable version; ... X-linked recessive disorders (51 P)
A medical condition is a broad term that includes all diseases and disorders. A disease is an abnormal condition affecting the body of an organism. A disorder is a functional abnormality or disturbance. Lists of animal diseases; List of autoimmune diseases; List of cancer types; List of childhood diseases and disorders; List of endocrine diseases
Download as PDF; Printable version; In other projects Wikidata item; Appearance. ... Pages in category "Genetic syndromes" The following 164 pages are in this ...