Phenotype #0000358981

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00474181
Associated disease	PRLTS
Phenotype details	see paper; ..., sensorineural hearing loss; premature ovarian insufficiency, 15y-menarche, oligomenorrhea; myopathy, muscle fatigue, difficulty climbing stairs, pain after exertion
Diagnosis/Initial	Perrault syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MDHLO
Age/Examination	36y (36 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-03-12 19:27:56 +01:00 (CET)
Date last edited	N/A

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