Ermine phenotype

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.

Also known as: O'Doherty syndrome, ermine phenotype, pigmentary disorder with hearing loss, BADS, BADS syndrome, black locks with albinism and deafness syndrome, black locks, oculocutaneous albinism, and deafness of the sensorineural type

0 clinical trials for this condition and its sub-types, 0 tagged with Ermine phenotype itself.