Phenotype #0000254048

Individual ID 00358834
Associated disease CHNG2
Phenotype details Patient diagnoses as congenital hypothyroidism by newborn screening.
Thyroid agenesis diagnosed by ultrasonography.
Diagnosis/Initial Congenital hypothyroidism
Inheritance Isolated (sporadic)
Diagnosis/Definite Congenital hypothyroidism by athyrosis
Age/Examination 02y11m (2 years, 11 months)
Age/Diagnosis 00y02m
Age/Onset 00y02m
Phenotype/Onset -
Protein -
Owner name Miguel Angel Alcántara-Ortigoza
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Miguel Angel Alcántara-Ortigoza
Date created 2021-03-15 19:35:37 +01:00 (CET)
Date last edited 2021-03-16 10:41:55 +01:00 (CET)

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