Phenotype #0000321911

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00431311
Associated disease	POF
Phenotype details	see paper; ..., primary amenorrhea, normal female secondary sexual characteristics, heigh 163 cm, weight 51 kg; high serum gonadotropin concentrations
Diagnosis/Initial	primary amenorrhea
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	ODG1
Age/Examination	17y (17 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-02-08 13:02:20 +01:00 (CET)
Date last edited	N/A

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