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Deaf blind hypopigmentation syndrome, Yemenite type

Disease definition

Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.

ORPHA:3214

  • Synonym(s):
    • Warburg-Thomsen syndrome
    • Yemenite deaf-blind hypopigmentation syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 601706
  • UMLS: C1866425
  • MeSH: C536771
  • GARD: 5535
  • MedDRA: -

Additional information

Further information on this disease

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