Phenotype #0000280207

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00386400
Associated disease	INFF
Diagnosis/Initial	primary ovarian insufficiency
Diagnosis/Definite	-
Phenotype details	see paper; ..., primary ovarian insufficiency, normal menstrual cycle, elevated FSH plasma levels around the postmenopausal range, normal antral follicle count, normal anti-Müllerian hormone levels; after two failed ovulation cycles, became pregnant in the third IVF cycle and delivered a healthy girl at term
Inheritance	Familial, autosomal recessive
Age/Examination	31y (31 years)
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-10-22 15:34:07 +02:00 (CEST)
Date last edited	N/A