Phenotype #0000171793

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00226682
Associated disease	SRXY3
Phenotype details	urethral opening penoscrotal, gonadal location (L/R) labioscrotal folds, low basal testosterone, partial testosterone response to hCG testing, dysgenetic testes bilaterally
Diagnosis/Initial	46,XY DSD
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	00y04m
Phenotype/Onset	-
Protein	-
Owner name	Helena Fabbri-Scallet
Database submission license	No license selected
Created by	Helena Fabbri-Scallet
Date created	2019-03-11 16:29:44 +01:00 (CET)
Date last edited	2019-03-12 12:48:52 +01:00 (CET)

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