Global Variome shared LOVD

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

Phenotype #0000357009 Individual ID 00472200 Associated disease NPHPL1 Phenotype details Exercise-induced rhabdomyolysis * Abnormal mitochondrial morphology * Focal hyperintensity of cerebral white matter on MRI Diagnosis/Initial Atypic myopathy Inheritance Isolated (sporadic) Diagnosis/Definite NPHPL1 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Camille Verebi Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Camille Verebi Date created 2026-01-15 15:38:01 +01:00 (CET) Date last edited 2026-02-06 10:21:15 +01:00 (CET)

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