Global Variome shared LOVD

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Phenotype #0000326675 Individual ID 00436498 Associated disease LS Inheritance Familial, autosomal recessive Diagnosis/Initial Leigh syndrome Age/Examination 01y04m (1 year, 4 months) Diagnosis/Definite COXPD51 Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details see paper; ..., 1y4m-died of respiratory failure; low birth weight 632g (− 4.26SD), height 28cm (− 4.7SD), OFC 23.2 cm (− 2.3SD); mental retardation, optic atrophy, MRI brain abnormal bilateral signals basal ganglia/brainstem; severe bilateral hearing loss Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-09-19 15:29:17 +02:00 (CEST) Date last edited N/A

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