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  2. List of genetic disorders - Wikipedia

    en.wikipedia.org/wiki/List_of_genetic_disorders

    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.

  3. Hereditary sensory and autonomic neuropathy type I - Wikipedia

    en.wikipedia.org/wiki/Hereditary_sensory_and...

    The diagnosis of HSAN I is based on the observation of symptoms described above and is supported by a family history suggesting autosomal dominant inheritance. The diagnosis is also supported by additional tests, such as nerve conduction studies in the lower limbs to confirm a sensory and motor neuropathy.

  4. Category:Autosomal dominant disorders - Wikipedia

    en.wikipedia.org/wiki/Category:Autosomal...

    Autosomal dominant Charcot–Marie–Tooth disease type 2 with giant axons; Autosomal dominant GTP cyclohydrolase I deficiency; Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome; Autosomal dominant nocturnal frontal lobe epilepsy; Autosomal dominant partial epilepsy with auditory features

  5. Category:Autosomal recessive disorders - Wikipedia

    en.wikipedia.org/wiki/Category:Autosomal...

    A. Abdallat–Davis–Farrage syndrome; Abetalipoproteinemia; Absent tibia-polydactyly-arachnoid cyst syndrome; Acanthosis nigricans-muscle cramps-acral enlargement syndrome

  6. List of OMIM disorder codes - Wikipedia

    en.wikipedia.org/wiki/List_of_OMIM_disorder_codes

    This is a list of disorder codes in the Online Mendelian Inheritance in Man (OMIM) database. These are diseases that can be inherited via a Mendelian genetic mechanism. OMIM is one of the databases housed in the U.S. National Center for Biotechnology Information. Isolated 17,20-lyase deficiency; 202110; CYP17A1

  7. Genetic disorder - Wikipedia

    en.wikipedia.org/wiki/Genetic_disorder

    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.

  8. Roberts syndrome - Wikipedia

    en.wikipedia.org/wiki/Roberts_syndrome

    Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs.

  9. Autosome - Wikipedia

    en.wikipedia.org/wiki/Autosome

    Autosomal genetic disorders can arise due to a number of causes, some of the most common being nondisjunction in parental germ cells or Mendelian inheritance of deleterious alleles from parents. Autosomal genetic disorders which exhibit Mendelian inheritance can be inherited either in an autosomal dominant or recessive fashion. [ 7 ]