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Ermine phenotype

Disease definition

A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging.


Classification level: Disorder
  • Synonym(s):
    • O'Doherty syndrome
    • Pigmentary disorder with deafness
    • Pigmentary disorder with hearing loss
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: E70.3
  • OMIM: 227010
  • UMLS: C1856899
  • MeSH: C535508
  • GARD: 407
  • MedDRA: -
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