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Piebald trait-neurologic defects syndrome

Disease definition

Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.

ORPHA:2885

Classification level: Disorder
  • Synonym(s):
    • Telfer-Sugar-Jaeger syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: No data available
  • ICD-10: -
  • OMIM: 172850
  • UMLS: C1868311
  • MeSH: -
  • GARD: 5133
  • MedDRA: -
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