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Sensorineural hearing loss with goiter and abnormal perchlorate discharge test.

Specialty
Endocrinology
Subspecialty
Endocrinology / Thyroid disorders
Sex & age distribution
Male: affected; Female: affected equally; Children: yes, hearing loss congenital
Gene(s) involved
FOXI1, KCNJ10, SLC26A4
Alternative names & eponyms
Deafness with goiter

Etiology & mechanism

Pendrin transporter defect.

Gene(s) involved (3)

Symptoms & signs (5)

In plain terms, someone with Pendred syndrome may experience the following — click any to explore related syndromes:

Same gene(s)

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