Ermine phenotype
Synonyms: O'Doherty syndrome | Pigmentary disorder with deafness | Pigmentary disorder with hearing loss
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
Ermine phenotype?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Vision for Tomorrow Foundation
VFT is committed to funding promising research on aniridia and albinism and supporting families affected by these challenging genetic conditions.
Clinical Trials
For a list of clinical trials in this disease area, please click here.