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"Deafness," autosomal recessive 24
- ... DEAFNESS, AUTOSOMAL DOMINANT 7; DFNA7 DEAFNESS, AMINOGLYCOSIDE-INDUCED DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2 DEAFNESS, AUTOSOMAL DOMINANT 4A; DFNA4A DEAFNESS, ...
- ... Testing Registry: Renal tubular acidosis with progressive nerve deafness Autosomal recessive distal renal tubular acidosis National Organization for Rare ...
- ... the CISD2 gene is also inherited in an autosomal recessive pattern. Diabetes insipidus and mellitus with optic atrophy and deafness Diabetes insipidus, diabetes mellitus, optic atrophy, and deafness ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically ... megaloblastic anemia syndrome National Organization for ...
- ... types of Usher syndrome are inherited in an autosomal recessive pattern, which means both ... Deafness-retinitis pigmentosa syndrome Graefe-Usher syndrome Hallgren syndrome ...
- ... Karet FE. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for ... G, Jeunemaitre X, Blanchard A. Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural ...
- ... Karet FE. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for ...
