193510.1

Syria

Sensorineural hearing impairment; Abnormal iris pigmentation; White forelock; Hypopigmentation of the skin; Abnormal nasal bridge morphology

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000248.3:c.33+5G>C	1		Waardenburg Syndrome, Type 2A