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This means the defective gene responsible for the disorder is located on an [[autosome]] (chromosome 9 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both [[genetic carrier|carry]] one copy of the defective gene but usually do not experience any signs or symptoms of the disorder.<ref>{{Cite web|url=https://www.nlm.nih.gov/medlineplus/ency/article/002052.htm|title=Autosomal recessive: MedlinePlus Medical Encyclopedia|website=www.nlm.nih.gov|access-date=2016-05-24}}</ref>
Two mutations have been identified. The first and most common is an SVA retrotransposal insertion in the 3'-untranslated region. The second is a deep-intronic point mutation c.647+2084G>T. This second mutation has only been found to date in the presence of the first mutation.<ref name="Kobayashi2017">{{Cite journal |last=Kobayashi
==Pathophysiology==
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