Global Variome shared LOVD

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Phenotype #0000346136 Individual ID 00457677 Associated disease LCHADD Phenotype details see paper; ..., newborn screening; exercise-induced muscle pain; retinitis pigmentosa; mother pregnancy HELLP syndrome Diagnosis/Initial newborn screening Inheritance Familial, autosomal recessive Diagnosis/Definite LCHADD Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset 10y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-11-15 22:27:07 +01:00 (CET) Date last edited N/A

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