Global Variome shared LOVD

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Phenotype #0000350667 Individual ID 00464682 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., 2d-hypoglycemia; primary ovarian insufficiency, bilateral sensorineural hearing loss, mild learning disability, no retinal dysfunction; 6y6m-height 141cm (−2.15 SD); 12y- no menarche, hypergonadotrophic hypogonadism Inheritance Familial, autosomal recessive Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-04-08 19:53:34 +02:00 (CEST) Date last edited N/A

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