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Hearing "loss," autosomal recessive 99
- ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ... Genetic Testing Registry: Megaloblastic anemia, thiamine-responsive, ...
- Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter. A goiter is an enlargement of the thyroid gland, ...
- ... thyroid dysgenesis. J Clin Endocrinol Metab. 2014 Jan;99(1):E169-76. doi: 10.1210/jc.2013-2619. Epub 2013 Dec 20. Citation on PubMed Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER. A mutation in PDS causes non-syndromic recessive deafness. Nat Genet. 1998 Mar;18(3):215- ...
- ... NAGLU SGSH This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
- ... disorders. NAGA This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
- ... identified. DCAF17 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
