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Hearing "loss," autosomal recessive 100
- ... This Health Condition Researchers have ... inherited in an autosomal recessive pattern, which means both copies of the GJB2 ...
- ... syndrome Genetic Testing Registry: Autosomal dominant keratitis-ichthyosis-hearing loss syndrome Keratitis-ichthyosis-deafness syndrome, autosomal recessive KID syndrome National Organization for Rare Disorders (NORD) ...
- ... this gene affect peroxisome function or lead to hearing loss in affected males and females and ovarian abnormalities in females with Perrault ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... that get interpreted as sound, is responsible for hearing loss. The loss of another gene, CATSPER2, which plays a role in sperm motility, ... syndrome is inherited in an autosomal recessive pattern, which means both copies of chromosome 15 ...
- ... PDSS1 PDSS2 This condition is inherited in an autosomal recessive pattern, which means both copies of a gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
- ... MGC75494 OPA3 protein OPA3_HUMAN optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) Tests of OPA3 ...
- ... no history of the disorder in their family.Autosomal recessive inheritance of Larsen syndrome has been reported in a small number of families. Autosomal recessive means both copies of the gene in each ...
- ... of the condition that is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
- ... spastic paraplegia type 7 is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
- ... severity. GNPTAB This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
