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Results 31 - 38 of 38 for Hearing "loss," "X-linked" 4
  1. HSD10 disease 
    ... this condition, such as epilepsy, movement problems, and hearing loss. Affected females appear to have a normal life ... dehydrogenase. Trends Endocrinol Metab. 2005 May-Jun;16(4):167-75. doi: 10.1016/j.tem.2005. ...
    https://medlineplus.gov/genetics/condition/hsd10-disease - Genetics
  2. Kabuki syndrome 
    ... are heart abnormalities, frequent ear infections (otitis media), hearing loss, and early puberty. Kabuki syndrome occurs in approximately ... syndrome revisited. J Hum Genet. 2012 Apr;57(4):223-7. doi: 10.1038/jhg.2012.28. ...
    https://medlineplus.gov/genetics/condition/kabuki-syndrome - Genetics
  3. Ocular albinism 
    ... associated with additional signs and symptoms, such as hearing loss. The most common form of this disorder, ocular ... sensorineural deafness. Int J Dermatol. 2004 Apr;43(4):290-2. doi: 10.1111/j.1365-4632. ...
    https://medlineplus.gov/genetics/condition/ocular-albinism - Genetics
  4. Oculofaciocardiodental syndrome 
    ... such as skeletal abnormalities (typically affecting the toes), hearing loss, and intellectual disabilities. OFCD syndrome is very rare; ... mutations in BCOR. Nat Genet. 2004 Apr;36(4):411-6. doi: 10.1038/ng1321. Epub 2004 ...
    https://medlineplus.gov/.../oculofaciocardiodental-syndrome - Genetics
  5. Muscular Dystrophy From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Muscular Dystrophy/Start Here ... Muscular Dystrophy ... National Institute of Neurological Disorders and Stroke ... Muscular dystrophy (MD) refers to a group of genetic ...
    https://www.ninds.nih.gov/.../disorders/muscular-dystrophy - External Health Links
  6. Joubert syndrome 
    ... 9; JBTS9 JOUBERT SYNDROME 8; JBTS8 JOUBERT SYNDROME 4; JBTS4 JOUBERT SYNDROME 7; JBTS7 JOUBERT SYNDROME 23; ... C Semin Med Genet. 2009 Nov 15;151C(4):326-40. doi: 10.1002/ajmg.c.30229. ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  7. SLC35A2-congenital disorder of glycosylation 
    ... of glycosylation. Am J Hum Genet. 2013 Apr 4;92(4):632-6. doi: 10.1016/j.ajhg.2013. ...
    https://medlineplus.gov/...35a2-congenital-disorder-of-glycosylation - Genetics
  8. About Fragile X Syndrome From the National Institutes of Health (National Human Genome Research Institute)  
    Fragile X Syndrome/Start Here ... Fragile X Syndrome ... National Human Genome Research Institute ... From the National Institutes of Health ... Fragile X syndrome is an ...
    https://www.genome.gov/Genetic-Disorders/Fragile-X-Syndrome - External Health Links
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