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Results 1 - 10 of 62 for Rare genetic deafness
  1. ... Tietz Tietz albinism-deafness syndrome Tietz's syndrome Genetic Testing Registry: Tietz syndrome Tietz syndrome National Organization for Rare Disorders (NORD) TIETZ ALBINISM-DEAFNESS SYNDROME; TADS PubMed Amiel J, Watkin PM, Tassabehji ...
  2. ... hearing loss Genetic Testing Registry: X-linked deafness Genetic Testing Registry: Hereditary hearing loss and deafness National Organization for Rare Disorders (NORD) ClinicalTrials.gov DEAFNESS, AUTOSOMAL DOMINANT 7; ...
  3. ... their family. HID syndrome Ichthyosis, hystrix-like, with deafness Genetic Testing Registry: Ichthyosis, hystrix-like, with hearing loss National Organization for Rare Disorders (NORD) ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS PubMed ...
  4. ... deafness and infertility Sensorineural deafness and male infertility Genetic Testing Registry: Deafness-infertility syndrome Deafness-infertility syndrome National Organization for Rare Disorders (NORD) DEAFNESS-INFERTILITY SYNDROME; DIS PubMed Avidan ...
  5. ... Mohr-Tranebjærg syndrome Opticoacoustic nerve atrophy with dementia Genetic Testing Registry: Deafness dystonia syndrome Mohr-Tranebjaerg syndrome National Organization for Rare Disorders (NORD) MOHR-TRANEBJAERG SYNDROME; MTS PubMed Bahmad ...
  6. ... loss syndrome PPK with deafness PPK-deafness syndrome Genetic Testing Registry: Palmoplantar keratoderma-deafness syndrome Palmoplantar keratoderma-deafness syndrome National Organization for Rare Disorders (NORD) KERATODERMA, PALMOPLANTAR, WITH DEAFNESS PubMed Birkenhager ...
  7. ... deafness syndrome Pili torti-sensorineural hearing loss PTD Genetic Testing Registry: Pili torti-deafness syndrome Björnstad syndrome Pili torti National Organization for Rare Disorders (NORD) BJORNSTAD SYNDROME; BJS PubMed Hinson JT, ...
  8. ... cell is sufficient to cause the disorder. CDHS Genetic Testing Registry: Craniofacial-deafness-hand syndrome Craniofacial-deafness-hand syndrome National Organization for Rare Disorders (NORD) CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS PubMed ...
  9. ... loss of vision Ataxia-deafness-optic atrophy, lethal Genetic Testing Registry: Arts syndrome Lethal ataxia with deafness and optic atrophy National Organization for Rare Disorders (NORD) ClinicalTrials.gov ARTS SYNDROME; ARTS PubMed ...
  10. ... symptoms of the condition. CS Dwarfism-retinal atrophy-deafness syndrome Genetic Testing Registry: Cockayne syndrome Cockayne syndrome National Organization for Rare Disorders (NORD) ClinicalTrials.gov COCKAYNE SYNDROME B; CSB ...
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