Global Variome shared LOVD

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Phenotype #0000291960 Individual ID 00398872 Associated disease obesity Phenotype details see paper; ..., 1d-ACTH deficiency; <2y-hyperphagia, obesity; puberty alterations somatotropic, gonadotropic, thyroid axes necessitating hormonal replacement; no obvious pigmentary features (hair color, skin reflectance; chemical analysis hair pigment increased pheomelanin/eumelanin Diagnosis/Initial ACTH deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 00y00m01d Phenotype/Onset ACTH deficiency 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 21:03:49 +01:00 (CET) Date last edited N/A

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