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4 Possible Causes for High Inter- and Intrafamiliar Variability of Phenotype, Large Cytoplasmic Schwann Cell Extensions around Axons, 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]

    Missing: Large Cytoplasmic Schwann Cell Extensions around Axons
  • Charcot-Marie-Tooth Disease Type 4C
    Missing: Sensorineural Hearing Loss Associated with ELSTs
  • CHARGE Syndrome

    CHARGE syndrome (formerly known as CHARGE association) is a rare syndrome caused by a genetic disorder. First described in 1979, the acronym "CHARGE" came into use for newborn children with the congenital features of coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth[…][en.wikipedia.org]

    Missing: Large Cytoplasmic Schwann Cell Extensions around Axons 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: Large Cytoplasmic Schwann Cell Extensions around Axons Sensorineural Hearing Loss Associated with ELSTs