Global Variome shared LOVD

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Phenotype #0000171915 Individual ID 00227872 Associated disease SRXY Phenotype details see paper; …, small phallus, penoscrotal hypospadias, high scrotal gonad position, absent Müllerian structures, partial hypogonadotropic hypogonadism; histology hyalinized testis, few germ cells Diagnosis/Initial XY sex reversal, without adrenal failure Inheritance Unknown Diagnosis/Definite - Age/Examination 06y (6 years) 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 2019-03-14 08:19:34 +01:00 (CET) Date last edited 2019-03-15 08:39:27 +01:00 (CET)

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