Global Variome shared LOVD

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Phenotype #0000301256 Individual ID 00397492 Associated disease BPES Phenotype details see paper; ..., amenorrhea, short stature, bilateral blepharophimosis, ptosis eyelids, cubitus valgus; breast/pubic hair Tanner III stage without any signs of further pubertal progression Diagnosis/Initial amenorrhea, short stature Inheritance Unknown Diagnosis/Definite - Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Amalia Sertedaki Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-05-03 18:58:59 +02:00 (CEST) Date last edited 2022-05-03 18:59:13 +02:00 (CEST)

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