Results 1 -
10
of
62
for
Rare genetic deafness
- ... 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 ...
- ... 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; ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... 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, ...
- ... 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 ...
- ... 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 ...
- ... 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 ...