Results 1 -
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108
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Hearing "loss," autosomal recessive
- ... condition. AR dRTA with deafness AR dRTA with hearing loss Autosomal recessive distal renal tubular acidosis with deafness Renal tubular ... Karet FE. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal ... with new evidence for hearing loss. J Med Genet. 2002 Nov;39(11):796- ...
- ... mutations. Usually, each parent of an individual with autosomal recessive hearing loss carries one copy of the mutated gene but ... Hereditary hearing loss and deafness Nonsyndromic hereditary sensorineural hearing ... AMINOGLYCOSIDE-INDUCED DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2 DEAFNESS, AUTOSOMAL DOMINANT 4A; DFNA4A DEAFNESS, ...
- ... 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) ...
- ... and improperly controlled eyeball growth, resulting in the hearing loss and nearsightedness that occur in deafness and myopia syndrome. SLITRK6 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... inner ear and in cardiac muscle, leading to hearing loss and an irregular heart rhythm characteristic of Jervell and Lange-Nielsen syndrome. KCNE1 KCNQ1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... or related features, such as type 2 diabetes, hearing loss, or psychiatric illness. However, ... Diabetes insipidus and mellitus with optic atrophy ...
- ... 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 ...
- ... combined pituitary hormone deficiency are inherited in an autosomal recessive pattern. ... hearing loss-spine abnormalities syndrome Pituitary hormone deficiency, combined 1 ...
- ... seemingly unrelated symptoms of megaloblastic anemia, diabetes, and hearing loss. Research suggests that an ... 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 ... syndrome is inherited in an autosomal recessive pattern, which means both copies of chromosome 15 ...
