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Results 1 - 10 of 46 for Severe hearing impairment
  1. COL11A2 gene 
    ... characterized by skeletal abnormalities, distinctive facial features, and severe hearing loss. These signs and symptoms are similar to those ...
    https://medlineplus.gov/genetics/gene/col11a2 - Genetics
  2. COL11A1 gene 
    ... 1, a disorder of bone growth characterized by severe skeletal abnormalities, hearing loss, and vision loss. Infants with fibrochondrogenesis type 1 ... condition include a distinctive facial appearance, eye abnormalities, ... severe than those of fibrochondrogenesis (described above). However, they ...
    https://medlineplus.gov/genetics/gene/col11a1 - Genetics
  3. MT-TL1 gene 
    ... episodes (MELAS). This condition is characterized by recurrent severe headaches, muscle weakness (myopathy), hearing loss, stroke-like episodes including a loss of consciousness, ...
    https://medlineplus.gov/genetics/gene/mt-tl1 - Genetics
  4. MT-TH gene 
    ... TH gene. This condition is characterized by recurrent severe headaches, muscle weakness (myopathy), hearing loss, stroke-like episodes including a loss of consciousness, ...
    https://medlineplus.gov/genetics/gene/mt-th - Genetics
  5. SLITRK6 gene 
    ... and myopia syndrome, a disorder that causes both hearing loss and severe nearsightedness (high myopia). The mutations that cause deafness and myopia syndrome result in an abnormally short SLITRK6 protein that is ... in the hearing loss and nearsightedness that occur in deafness and myopia ...
    https://medlineplus.gov/genetics/gene/slitrk6 - Genetics
  6. TECTA gene 
    ... are mutated in each cell. This form of hearing loss is usually severe to profound and is prelingual.The TECTA gene ...
    https://medlineplus.gov/genetics/gene/tecta - Genetics
  7. MT-TK gene 
    ... signs and symptoms of this syndrome include recurrent severe headaches, muscle weakness (myopathy), difficulty coordinating movements (ataxia), hearing loss, and stroke-like episodes including a loss of ...
    https://medlineplus.gov/genetics/gene/mt-tk - Genetics
  8. POU3F4 gene 
    ... the child learns to speak (prelingual), becomes more severe over time, and usually involves abnormalities of both the inner ear and the middle ear (mixed hearing loss). In the middle ear, one of the small ...
    https://medlineplus.gov/genetics/gene/pou3f4 - Genetics
  9. MYO7A gene 
    ... HUMAN myosin VIIA (Usher syndrome 1B (autosomal recessive, severe)) NSRD2 USH1B ... K, Webster JA, Fattahi Z, Bataejad M, Kimberling WJ, Stephan D, Najmabadi H, Bahlo M, Smith RJ. Variable hearing impairment in a DFNB2 family with a novel MYO7A ...
    https://medlineplus.gov/genetics/gene/myo7a - Genetics
  10. GJB2 gene 
    ... after a child learns to speak (postlingual). The hearing loss ranges from mild to profound, becomes more severe over time, and particularly affects the ability to ...
    https://medlineplus.gov/genetics/gene/gjb2 - Genetics
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