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Biotinidase deficiency is inherited in an autosomal recessive pattern, which means the defective gene is located on an autosome, and two copies of the defective gene - one from each parent - must be inherited for a person to be affected by the disorder. The parents of a child with an autosomal recessive disorder are usually not affected by the ...
In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles being different from each other (for example, both alleles might be ...
Rotor syndrome (also known as Rotor type hyperbilirubinemia) [2] is a rare cause of mixed direct (conjugated) and indirect (unconjugated) hyperbilirubinemia, relatively benign, autosomal recessive [3] bilirubin disorder characterized by non-hemolytic jaundice due to the chronic elevation of predominantly conjugated bilirubin. [2]
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]
Spinocerebellar ataxia, autosomal recessive 6 608029: Disease ID 4954 at NIH's Office of Rare Diseases: Spinocerebellar ataxia, autosomal recessive 21 - mutation in SCYL1: Online Mendelian Inheritance in Man (OMIM): 616719: ORPHA:466794: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 607250: Disease ID 10000 at NIH's Office ...
A hereditary carrier (genetic carrier or just carrier), is a person or other organism that has inherited a recessive allele for a genetic trait or mutation but usually does not display that trait or show symptoms of the disease. Carriers are, however, able to pass the allele onto their offspring, who may then express the genetic trait.
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 .
Galactokinase deficiency has an autosomal recessive pattern of inheritance. Galactokinase deficiency is an autosomal recessive disorder, [5] which means the defective gene responsible for the disorder is located on an autosome (chromosome 17 is an autosome). Two copies of the defective gene (one inherited from each parent) are required in order ...