Pendred syndrome [Supplementary Concept]
An autosomal recessive disorder associated with developmental abnormalities of the COCHLEA, sensorineural hearing loss, and diffuse thyroid enlargement (goiter). Mutations in the SLC26A4 gene have been identified. OMIM: 274600
Date introduced: August 25, 2010
MeSH Unique ID: C536648
Heading Mapped to:
Entry Terms:
- Deafness with goiter
- Goiter-deafness syndrome
- Autosomal Recessive Sensorineural Hearing Impairment and Goiter
- Pendred's Syndrome
- Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2B
- Thyroid Dyshormonogenesis 2B
- Thyroid Hormonogenesis, Genetic Defect In, 2B