Global Variome shared LOVD

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Phenotype #0000254051 Individual ID 00358837 Associated disease CHNG2 Phenotype details Congenital hypothyroidism diagnosed by newborn screening. Thyroid agenesis diagnosed by ultrasonography. Pending evaluation of thyroglobulin levels (not available at this time). Diagnosis/Initial Congenital hypothyroidism Inheritance Isolated (sporadic) Diagnosis/Definite Congenital hypothyroidism by thyroid agenesis Age/Examination 02y06m (2 years, 6 months) Age/Diagnosis 00y01m Age/Onset - Phenotype/Onset - Protein - Owner name Miguel Angel Alcántara-Ortigoza Database submission license Creative Commons Attribution 4.0 International Created by Miguel Angel Alcántara-Ortigoza Date created 2021-03-15 20:32:44 +01:00 (CET) Date last edited 2021-03-16 16:08:24 +01:00 (CET)

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