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Cystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine.
Tay–Sachs disease is inherited in an autosomal recessive pattern. The HEXA gene is located on the long (q) arm of human chromosome 15, between positions 23 and 24. Tay–Sachs disease is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% risk of giving birth to an affected child with each ...
Argininemia. Argininosuccinic aciduria. Arterial tortuosity syndrome. Aspartylglucosaminuria. Atelosteogenesis, type II. Athabaskan brainstem dysgenesis syndrome. Atransferrinemia. Autosomal recessive axonal neuropathy with neuromyotonia. Autosomal recessive GTP cyclohydrolase I deficiency.
Genetic disorder. A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single ...
Approximately half of classic autosomal recessive SCD patients do not experience a crisis until five years of age, or older. [22] Some of these patients, and others who have other genotypes, may only present with symptoms under conditions of moderate to severe hypoxia, and thus may be unaware that they have the disease until later in life. [16]
Werner syndrome has an autosomal recessive pattern of inheritance. Werner syndrome (WS) or Werner's syndrome, also known as "adult progeria ", [1] is a rare, autosomal recessive disorder [2] which is characterized by the appearance of premature aging. [3] Werner syndrome is named after the German scientist Otto Werner. [4]
Friedreich's ataxia (FRDA) is a rare, inherited, autosomal recessive neurodegenerative disorder that primarily affects the nervous system, causing progressive damage to the spinal cord, peripheral nerves, and cerebellum, leading to impaired muscle coordination (ataxia). The condition typically manifests in childhood or adolescence, with initial ...
The disease follows an autosomal recessive pattern of inheritance, meaning that an individual must inherit two copies of the mutated gene involved in each cell to develop the condition. [12] In most cases, when a person has this autosomal recessive condition, their parents act as carriers.