Global Variome shared LOVD

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Phenotype #0000358980 Individual ID 00474180 Associated disease PRLTS Phenotype details see paper; ..., sensorineural hearing loss; premature ovarian insufficiency, 12y-delayed puberty, primary amenorrhea; 50y-atrophic ovaries; below-average IQ Diagnosis/Initial Perrault syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 50y (50 years) Age/Diagnosis - Age/Onset - 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 2026-03-12 19:27:56 +01:00 (CET) Date last edited N/A

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