Global Variome shared LOVD

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Phenotype #0000274434 Individual ID 00380582 Associated disease PRLTS Phenotype details see paper; ..., 4y-sensorineural hearing loss; more severe in high frequencies, slowly progressive; 18y-primary amenorrhea, underdeveloped secondary sexual characteristics, abdominal ultrasound revealed streak ovaries and small uterus, ovary biopsy showed fibrous tissue without primordial follicles Diagnosis/Initial Perrault syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite PRLTS6 Age/Examination 38y (38 years) Age/Diagnosis - Age/Onset 04y Phenotype/Onset sensorineural hearing loss Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-08-19 09:13:10 +02:00 (CEST) Date last edited 2021-08-19 09:18:24 +02:00 (CEST)

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