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For more information on autosomal recessive inheritance, see the articles Autosome, ... Biotin-thiamine-responsive basal ganglia disease; Biotinidase deficiency;
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]
Certain other phenotypes, such as wet versus dry earwax, are also determined in an autosomal recessive fashion. [24] [25] Some autosomal recessive disorders are common because, in the past, carrying one of the faulty genes led to a slight protection against an infectious disease or toxin such as tuberculosis or malaria. [26]
Sandhoff disease: HEXB: recessive Sanfilippo syndrome: SGSH, NAGLU, HGSNAT, GNS: 1:70,000 Scheuermann's disease: 1q21-q22 or 7q22 autosomal dominant 1:45 Schwartz–Jampel syndrome: HSPG2: recessive Sjogren-Larsson syndrome: ALDH3A2: Autosomal-recessive, , Archived 2018-01-23 at the Wayback Machine: Skin fragility-woolly hair-palmoplantar ...
Autosomal recessive pattern, showing how two unaffected carriers can have a child with the disease. Some genetic disorders are caused by having two "bad" copies of a recessive allele. When the gene is located on an autosome (as opposed to a sex chromosome), it is possible for both men and women to be carriers .
Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders including neurodegeneration. Symptoms can start to appear as early as ...
Mitochondrial DNA depletion syndrome (MDS or MDDS), or Alper's disease, is any of a group of autosomal recessive disorders that cause a significant drop in mitochondrial DNA in affected tissues. Symptoms can be any combination of myopathic , hepatopathic , or encephalomyopathic . [ 1 ]
Niemann–Pick disease has an autosomal recessive pattern of inheritance. Mutations in the SMPD1 gene cause Niemann–Pick disease types A and B. They produce a deficiency in the activity of the lysosomal enzyme acid sphingomyelinase, that breaks down the lipid sphingomyelin.