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A. Abdallat–Davis–Farrage syndrome; Abetalipoproteinemia; Absent tibia-polydactyly-arachnoid cyst syndrome; Acanthosis nigricans-muscle cramps-acral enlargement syndrome
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 .
An illustration of the inheritance pattern and phenotypic effects of an autosomal recessive gene. 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 ...
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.
Wiedemann–Rautenstrauch (WR) syndrome (German pronunciation: [ˈviːdəman ˈʁaʊtn̩ʃtʁaʊx]), also known as neonatal progeroid syndrome, [1] is a rare autosomal recessive progeroid syndrome. There have been over 30 cases of WR. [2] WR is associated with abnormalities in bone maturation, and lipids and hormone metabolism. [3]
Triple-A syndrome or AAA syndrome is a rare autosomal recessive congenital disorder.In most cases, there is no family history of AAA syndrome. [2] The syndrome was first identified by Jeremy Allgrove and colleagues in 1978; since then just over 100 cases have been reported. [3]
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 . The condition typically manifests in childhood or adolescence, with initial ...
3C syndrome is an autosomal recessive disease, caused by a mutation on the long arm of chromosome 8 at 8q24.13, the locus for KIAA0196, [4] the gene for the protein strumpellin. Strumpellin is highly expressed in skeletal muscle cells and mutations in it are also associated with spastic paraplegia .