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.
MONDO:0002254
syndromic disease
is_a
BADS
related
BADS syndrome
related
O'Doherty syndrome
exact
black locks with albinism and deafness syndrome
related
ermine phenotype
exact
pigmentary disorder with hearing loss
exact