Phenotype #0000132422

Individual ID 00167558
Associated disease PDS;TDH2B
Phenotype details Cochlear dysplasia, congenital hypothyroidism, PDT positive, high thyroglobulin
Diagnosis/Initial Pendred syndrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Anne-Françoise Roux
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anne-Françoise Roux
Date created 2014-09-05 14:20:35 +02:00 (CEST)
Date last edited N/A

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