Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000173067 Individual ID 00230586 Associated disease SRXY3 Phenotype details Perineal urethral opening, predominantly female external genitalia, no palpable gonads. Presence of uterus. Dysgenetic testis. Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite 46,XY partial gonadal dysgenesis Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Helena Fabbri-Scallet Database submission license No license selected Created by Helena Fabbri-Scallet Date created 2019-04-16 20:44:04 +02:00 (CEST) Date last edited 2019-04-18 13:46:56 +02:00 (CEST)

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