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Results 1 - 9 of 9 for "X-linked" deafness
  1. Arts syndrome 
    ... altered copy of the PRPS1 gene. Ataxia, fatal X-linked, with deafness and loss of vision Ataxia-deafness-optic atrophy, ... Arts WF, Loonen MC, Sengers RC, Slooff JL. X-linked ataxia, weakness, deafness, and loss of vision in early childhood with ...
    https://medlineplus.gov/genetics/condition/arts-syndrome - Genetics
  2. Nonsyndromic hearing loss 
    ... Registry: Nonsyndromic genetic hearing loss Genetic Testing Registry: X-linked deafness Genetic Testing Registry: Hereditary hearing loss and deafness ...
    https://medlineplus.gov/genetics/condition/nonsyndromic-hearing-loss - Genetics
  3. Deafness-dystonia-optic neuronopathy syndrome 
    ... Arena F, Barker D, et al. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency ...
    https://medlineplus.gov/...ness-dystonia-optic-neuronopathy-syndrome - Genetics
  4. Ocular albinism 
    ... type II Ocular albinism with late-onset sensorineural deafness X-linked recessive ocular albinism National Organization for Rare Disorders (NORD) ClinicalTrials.gov ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS; OASD ALBINISM, OCULAR, TYPE I; OA1 ALBINISM, OCULOCUTANEOUS, ...
    https://medlineplus.gov/genetics/condition/ocular-albinism - Genetics
  5. Nearsightedness 
    ... conditions include autosomal recessive congenital stationary night blindness, X-linked congenital stationary night blindness, Stickler syndrome, Marfan syndrome, retinitis pigmentosa, cone-rod dystrophy, deafness and myopia syndrome, Knobloch syndrome, and Cohen syndrome. ...
    https://medlineplus.gov/genetics/condition/nearsightedness - Genetics
  6. Charcot-Marie-Tooth disease 
    ... AUTOSOMAL RECESSIVE NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND ABSENT SENSORY LARGE MYELINATED FIBERS CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA; CMTX4 ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  7. Alport syndrome 
    ... basement membrane nephropathy). ... Alport syndrome Autosomal dominant Alport syndrome ...
    https://medlineplus.gov/genetics/condition/alport-syndrome - Genetics
  8. Norrie disease 
    ... Corey DP, Chen ZY. Vascular defects and sensorineural deafness in a mouse model of Norrie disease. J ...
    https://medlineplus.gov/genetics/condition/norrie-disease - Genetics
  9. Ehlers-Danlos syndrome 
    ... Genetic Testing Registry: Ehlers-Danlos syndrome, kyphoscoliotic and deafness type Genetic Testing Registry: Ehlers-Danlos syndrome, kyphoscoliotic ... SYNDROME, MUSCULOCONTRACTURAL TYPE, 1; EDSMC1 CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVDPX EHLERS-DANLOS SYNDROME WITH PLATELET DYSFUNCTION FROM ...
    https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome -