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Results 1 - 10 of 22 for "Deafness," autosomal recessive 6
  1. ... DEAFNESS, X-LINKED 1; DFNX1 DEAFNESS, AUTOSOMAL DOMINANT 6; DFNA6 DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY; DFNX5 DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7 DEAFNESS, X-LINKED 4; DFNX4 DEAFNESS, ...
  2. ... dysfunction, autosomal recessive inheritance Gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance Gonadal dysgenesis, XX type, with deafness Ovarian ...
  3. ... Testing Registry: Renal tubular acidosis with progressive nerve deafness Autosomal recessive distal renal tubular acidosis National Organization for Rare ...
  4. ... MYOPIA 13, X-LINKED; MYP13 MYOPIA 18, AUTOSOMAL RECESSIVE; MYP18 MYOPIA 3, AUTOSOMAL DOMINANT; MYP3 MYOPIA 6; MYP6 MYOPIA 17, AUTOSOMAL DOMINANT; MYP17 MYOPIA 5, ...
  5. ... MOTOR AND SENSORY, WITH EXCESSIVE MYELIN FOLDING COMPLEX, AUTOSOMAL RECESSIVE NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND ABSENT SENSORY LARGE MYELINATED ...
  6. ... 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 ...
  7. ... related heart abnormalities, but their hearing is normal. Autosomal recessive long QT syndrome (LQTS) Cardio-auditory-syncope syndrome Cardioauditory syndrome of Jervell and Lange-Nielsen Deafness, congenital, and functional heart disease Jervell-Lange Nielsen ...
  8. ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Congenital deafness with inner ear agenesis, microtia, and microdontia Deafness ...
  9. ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition. Diabetes-hypogonadism-deafness-intellectual disability syndrome WSS Genetic Testing Registry: Woodhouse- ...
  10. ... duplication of genetic material on the paternal chromosome 6 can be passed ... recessive pattern. Autosomal recessive inheritance means both copies of ...
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