Global Variome shared LOVD

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Phenotype #0000291957 Individual ID 00398859 Associated disease OBAIRH Phenotype details see paper; ..., 6m-convulsions, hypoglycemia due to ACTH deficiency, red hair, pale skin Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite OBAIRH Age/Examination - Age/Diagnosis - Age/Onset 00y06m Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-01-13 17:32:31 +01:00 (CET) Date last edited N/A

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