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4 Possible Causes for High Inter- and Intrafamiliar Variability of Phenotype, Sensorineural Hearing Loss Associated with ELSTs

  • Von Hippel-Lindau Disease

    ) hearing loss, sensorineural, associated with elsts Genitourinary Kidneys: multiple renal cysts renal hemangioblastoma renal cell carcinoma (e.g., ) Genitourinary Internal[malacards.org] The majority of the patients had associated audiovestibular symptoms, including sensorineural hearing loss (84% of ears), tinnitus (73%), and vertigo (68%) that did not correlate[journal.frontiersin.org] Respiratory Lung: pulmonary hemangiomas Abdomen Pancreas: multiple pancreatic cysts pancreatic hemangioblastoma Head And Neck Ears: vertigo tinnitus endolymphatic sac tumors (elsts[malacards.org]

  • CHARGE Syndrome

    Abstract CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping microdeletion on chromosome 8q12 identified by array comparative genomic hybridization in two individuals with CHARGE syndrome. Sequence analysis of genes[…][doi.org]

    Missing: Sensorineural Hearing Loss Associated with ELSTs
  • Partial Monosomy 18q

    Nuijten, Inge * ; Admiraal, Ronald † ; Van Buggenhout, Griet ‡ ; Cremers, Cor † ; Frijns, Jean-Pierre ‡ ; Smeets, Dominique * ; van Ravenswaaij-Arts, Conny * PEDIATRIC OTOLOGY Abstract Author Information Authors To study the occurrence of congenital aural atresia in patients with a deletion of the long arm of[…][journals.lww.com]

    Missing: Sensorineural Hearing Loss Associated with ELSTs
  • Charcot-Marie-Tooth Disease Type 4C
    Missing: Sensorineural Hearing Loss Associated with ELSTs

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