Global Variome shared LOVD

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Phenotype #0000173069 Individual ID 00230588 Associated disease SRXY3 Phenotype details Primary amenorrhea and absence of secondary female sex characteristics. 3-cm phallus, female urethra and a vaginal opening, no gonads were palpable. Mullerian derivatives absent. 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 21:38:09 +02:00 (CEST) Date last edited 2019-04-18 13:49:25 +02:00 (CEST)

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