Phenotype #0000171866

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00165040
Associated disease	SRXY3
Phenotype details	see paper; ..., complete gonadal dysgenesis, female external genitalia, normal adrenal phenotype, Müllerian cells present, streak gonads (no evidence of tubules)
Diagnosis/Initial	severe 46,XY sex reversal, complete gonadal dysgenesis
Inheritance	Unknown
Diagnosis/Definite	SRXY-3
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2019-03-13 21:25:36 +01:00 (CET)
Date last edited	2019-03-15 08:55:15 +01:00 (CET)

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