Ermine phenotype

Get in touch with RARE Concierge.

Contact RARE Concierge

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 July 2024

Newly diagnosed with
Ermine phenotype?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.