Table 1.

Clinical and molecular findings in the 3 patients

	Patient 1	Patient 2	Patient 3
Age at diagnosis (years)	37	28	1
Dystopia canthorum	−	−	−
White forelock	+	+	+
Sensorineural hearing loss	+	+	+
Iris pigmentation abnormality	+	+	+
Skin hypopigmentation	+	−	+
Hirschsprung disease	−	−	+
Gene, mutation	MITF c.33+5G>C (intron 1) heterozygous	MITF c.710+5G>T (intron 7) heterozygous	EDNRB p. Ser342Ile homozygous