Phenotype #0000347605

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00459528
Associated disease	PRLTS
Phenotype details	see paper; ..., bilateral sensorineural hearing loss; primary ovarian insufficiency; primary amenorrhea; mild intellectual disability; no renal dysfunction; no retinopathy; no hepatomegaly; no transient liver failure
Diagnosis/Initial	Perrault-syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	19y (19 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-01-08 10:12:39 +01:00 (CET)
Date last edited	N/A

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