Global Variome shared LOVD

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Phenotype #0000254050 Individual ID 00358836 Associated disease CHNG2 Phenotype details Congenital hypothyroidism due to thyroid ectopy diagnosed by newborn screening and scintigraphy. Diagnosis/Initial Congenital hypothyroidism Inheritance Isolated (sporadic) Diagnosis/Definite Congenital hypothyroidism by thyroid ectopy Age/Examination 08y01m (8 years, 1 month) 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 20:21:21 +01:00 (CET) Date last edited 2021-03-16 16:06:03 +01:00 (CET)

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