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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.
Advanced sleep phase disorder; Aerotoxic syndrome; Afferent loop syndrome; Aicardi syndrome; Aicardi–Goutières syndrome; AIDS dysmorphic syndrome; Al-Raqad syndrome; Alagille syndrome; Albinism–deafness syndrome; Alcohol withdrawal syndrome; Alezzandrini syndrome; Alice in Wonderland syndrome; Alien hand syndrome; Allan–Herndon–Dudley ...
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 ...
Congenital Disorder of Glycosylation (CDG) Congenital hyperinsulinism; Congenital insensitivity to pain with anhidrosis (CIPA) Congenital pulmonary airway malformation (CPAM) Conjoined twins; Costello syndrome; Craniopagus parasiticus; Cri du chat syndrome; Cyclopia; Cystic fibrosis
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
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. As of 28 June 2019 [update] , approximately 9,000 of the over 25,000 entries in OMIM represented phenotypes ; the rest represented genes , many of which were ...
Genetic epidemiology is the study of the role of genetic factors in determining health and disease in families and in populations, and the interplay of such genetic factors with environmental factors. Genetic epidemiology seeks to derive a statistical and quantitative analysis of how genetics work in large groups.
A. Aarskog–Scott syndrome; Ablepharon macrostomia syndrome; Absence deformity of leg-cataract syndrome; Ackerman syndrome; Acro-oto-radial syndrome; Acrocallosal syndrome