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Results 1 - 10 of 10 for Nonsyndromic genetic hearing loss
  1. ... Nonsyndromic hearing loss and deafness Genetic Testing Registry: Nonsyndromic genetic hearing loss Genetic Testing Registry: X-linked deafness Genetic Testing ...
  2. ... sister will likely be misdiagnosed as having isolated (nonsyndromic) hearing loss rather than Perrault syndrome. Perrault syndrome has several genetic causes. TWNK, CLPP, HARS2, LARS2, or HSD17B4 gene ...
  3. ... subset of these genes also cause forms of nonsyndromic hearing loss that ... best-studied genetic factors associated with age-related hearing loss are ...
  4. ... Marlin S. The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. Am ...
  5. ... and symptoms. These conditions include a form of nonsyndromic hearing loss (hearing loss that does not affect other parts ... Smith RJH, Iwasa Y, Schaefer AM. Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct. 1998 ... Citation on PubMed
  6. ... mutation will develop the disorder.Most cases of nonsyndromic paraganglioma and pheochromocytoma are considered sporadic, which means the tumors occur in ... Glomus jugulare tumors Paragangliomas 1 ...
  7. ... of Stickler syndrome, which are distinguished by their genetic causes and their patterns of signs and symptoms. In particular, the eye abnormalities and severity of hearing loss differ among the types. Type I has the ...
  8. ... It is likely under diagnosed in people with hearing loss. Deafness-infertility syndrome is caused by a deletion of genetic material on the long (q) arm of chromosome ...
  9. ... cause the disorder. FGFR3-associated coronal synostosis Muenke nonsyndromic coronal craniosynostosis Genetic Testing Registry: Muenke syndrome Muenke syndrome National Organization ...
  10. ... characterized by the combination of vision loss and hearing loss beginning early in life. Retinitis pigmentosa is also a feature of several other genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; and ...