Phenotype #0000358979

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00474179
Associated disease	PRLTS
Phenotype details	see paper; ..., sensorineural hearing loss; premature ovarian insufficiency; peripheral neuropathy, tremor, ataxia, dementia, leukodystrophy, pigmentary retinopathy; 2y-speech delay; 17y-losing functional abilities
Diagnosis/Initial	Perrault syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
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	2026-03-12 19:27:56 +01:00 (CET)
Date last edited	N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.