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Arterial tortuosity syndrome. Aspartylglucosaminuria. Atelosteogenesis, type II. Athabaskan brainstem dysgenesis syndrome. Atransferrinemia. Autosomal recessive axonal neuropathy with neuromyotonia. Autosomal recessive GTP cyclohydrolase I deficiency. Autosomal recessive multiple epiphyseal dysplasia.
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 ...
Chédiak–Higashi syndrome[1] (CHS) is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, [2] which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, albinism, and peripheral neuropathy. In Chédiak–Higashi syndrome, the ...
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]
Causes. Zellweger spectrum disorders are a group of autosomal recessive genetic disorders. They are caused due to pathogenic mutations in at least 13 different PEX genes that encode peroxins. [5] It affects the peroxisomes, which are organelles in the body that are meant to breakdown items like acids and toxic compounds.
Tetra-amelia syndrome (tetra- + amelia), also called autosomal recessive tetraamelia, [1] is an extremely rare autosomal recessive [2] congenital disorder characterized by the absence of all four limbs. Other areas of the body are also affected by malformations, such as the face, skull, reproductive organs, anus, lungs and pelvis. [1]
Finally, in 1976, Marcel Simon and his collaborators confirmed that haemochromatosis is an autosomal recessive disorder that has a link to the human leukocyte antigen (HLA) region of the genome. It took 20 years for researchers at Mercator Genetics to effectively identify and clone the haemochromatosis genes using a positional cloning approach ...
Alström syndrome (AS), also called Alström–Hallgren syndrome, [1] is a very rare autosomal recessive genetic disorder characterised by childhood obesity and multiple organ dysfunction. Symptoms include early-onset type 2 diabetes, cone-rod dystrophy resulting in blindness, sensorineural hearing loss and dilated cardiomyopathy.
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