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9 Possible Causes for Basal Lamina 'Onion Bulb' Formation, 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]

    Missing: Basal Lamina 'Onion Bulb' Formation
  • 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: Basal Lamina 'Onion Bulb' Formation Sensorineural Hearing Loss Associated with ELSTs
  • Hereditary Areflexic Dystasia

    lamina onion bulb formation Cerebellar vermis atrophy Decreased number of large peripheral myelinated nerve fibers Vocal cord paralysis Foot dorsiflexor weakness Paralysis[mendelian.co] […] impairment Segmental peripheral demyelination Peripheral axonal degeneration Axonal degeneration Neutropenia Peripheral axonal neuropathy Heterogeneous Edema Pain Cataract Basal[mendelian.co]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype 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: Basal Lamina 'Onion Bulb' Formation Sensorineural Hearing Loss Associated with ELSTs
  • Déjerine-Sottas Disease

    Onion bulb formations are always seen in Dejerine-Sottas disease patients, often with double basal laminae. 1 REFERENCES 1. Warner LE, Garcia CA, Lupski JR.[anestesiarianimazione.com]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Antinolo-Nieto-Borrego Syndrome

    lamina onion bulb formation 33 frequent (33%) HP:0003400 9 spastic paraplegia 33 HP:0001258 10 absent eyelashes 33 HP:0000561 11 absent eyebrow 33 HP:0002223 12 basal lamina[malacards.org] 'onion bulb' formation 60 Frequent (79-30%) 13 demyelinating sensory neuropathy 33 HP:0011402 14 demyelinating motor neuropathy 33 HP:0007220 15 onion bulb formation 33 HP[malacards.org] 33%) Frequent (79-30%) HP:0007108 6 distal amyotrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003693 7 poikiloderma 60 33 frequent (33%) Frequent (79-30%) HP:0001029 8 basal[malacards.org]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Charcot-Marie-Tooth Disease Type 4A
    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Charcot-Marie-Tooth Disease Type 4F
    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs