Global Variome shared LOVD

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

Phenotype #0000355375 Individual ID 00470230 Associated disease ? Diagnosis/Initial - Diagnosis/Definite PEOB1 Phenotype details see paper; ..., no ataxia; no pure sensory polyneuropathy; ptosis; ophthalmoparesis; no dysarthria; no dysphagia; no seizure; proximal muscle weakness; no exercise intolerance; no deafness; no migraine; no cognitive impairment; no movement disorders; no depression; no gastro-intestinal dysmotility Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 30y Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-11-29 09:23:48 +01:00 (CET) Date last edited N/A

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