Term Name: Pendred Syndrome
Synonyms: congenital hypothyroidism due to dyshormonogenesis 2B, deafness with goiter, genetic defect in thyroid hormonogenesis 2B, goiter-deafness syndrome, TDH2B, thyroid dyshormonogenesis 2B
Definition: A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q.
Ontology: Human Disease [DOID:0060744]   ( DOID:0060744 )

Relationships
is a type of: autosomal recessive disease syndrome