The proband exhibits congenital severe sensorineural hearing loss, heterochromia iridis and facial freckles.

其他家系成员除一名仅表现为先天性耳聋外, 均表现为颜面、上肢雀斑和/或早白发。

An example of heterochromia in a human. The subject has one brown and one hazel eye.

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