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Results 1 - 10 of 15 for Rare genetic deafness
  1. Alport syndrome 
    Alport syndrome is a rare inherited disorder that damages the tiny blood vessels in the kidneys. It can also cause hearing loss and ...
    https://medlineplus.gov/ency/article/000504.htm - Medical Encyclopedia
  2. McCune-Albright syndrome 
    ... may include: Blindness Cosmetic problems from bone abnormalities Deafness Osteitis fibrosa cystica Premature puberty Repeated broken bones Tumors of the bone (rare)
    https://medlineplus.gov/ency/article/001217.htm - Medical Encyclopedia
  3. Noonan syndrome with multiple lentigines 
    ... at: National Organization for Rare Disorders -- rarediseases.org/rare-diseases/leopard-syndrome/ Noonan Syndrome Foundation -- www.teamnoonan.org/ Rasopathies Network -- rasopathiesnet.org/
    https://medlineplus.gov/ency/article/001473.htm - Medical Encyclopedia
  4. Krabbe disease 
    Krabbe disease is a rare genetic disorder of the nervous system. It is a type of brain disease called leukodystrophy. ... Disorders -- rarediseases.org/rare-diseases/leukodystrophy-krabbes/s ... Diseases Information Center -- rarediseases.info.nih.gov/diseases/ ...
    https://medlineplus.gov/ency/article/001198.htm - Medical Encyclopedia
  5. Nevoid basal cell carcinoma syndrome 
    Nevoid basal cell carcinoma syndrome is a rare genetic condition. The main gene linked to the syndrome is known as PTCH (patched). A second gene, called SUFU, has also been associated with ...
    https://medlineplus.gov/ency/article/001452.htm - Medical Encyclopedia
  6. Waardenburg syndrome 
    Symptoms may include: Cleft lip (rare) Constipation Deafness (more common in type II disease) Extremely pale blue eyes or eye colors that don't match ( heterochromia ) Pale color skin, ...
    https://medlineplus.gov/ency/article/001428.htm - Medical Encyclopedia
  7. Mucopolysaccharidosis type I 
    ... rarediseases.org/rare-diseases/mucopolysaccharidosis-type-i NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/ ...
    https://medlineplus.gov/ency/article/001204.htm - Medical Encyclopedia
  8. Mucopolysaccharidosis type II 
    ... org/rare-diseases/mucopolysaccharidosis-type-ii-2/ NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/ ...
    https://medlineplus.gov/ency/article/001203.htm - Medical Encyclopedia
  9. Trisomy 18 
    ... chap 1. National Center for Advancing Translational Sciences. Genetic and Rare Diseases Information Center website. Trisomy 18. rarediseases.info. ...
    https://medlineplus.gov/ency/article/001661.htm - Medical Encyclopedia
  10. Trisomy 13 
    ... chap 1. National Center for Advancing Translational Sciences. Genetic and Rare Diseases Information Center website. Trisomy 13. rarediseases.info. ...
    https://medlineplus.gov/ency/article/001660.htm - Medical Encyclopedia
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