Global Variome shared LOVD

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Phenotype #0000318998 Individual ID 00428051 Associated disease ? Diagnosis/Initial - Diagnosis/Definite MC1DN31 Phenotype details 30m-died; born at term, uneventful twin pregnancy (dizygotic twins), cesarean section;, weight 2450 g, length 48 cm, OFC 33 cm; no dysmorphism, shortly after birth muscular hypotonia, poor feeding behavior; <1y-developmental delay, failure to thrive; sensorineural deafness; MRI brain enlarged ventricles, megacisterna magna; severe isolated complex I deficiency (0.16 lowest control); muscle wasting, dyskinetic movement disorder, never achieved developmental milestones, recurrent respiratory infections Inheritance Familial, autosomal recessive Age/Examination 00y30m (30 months) Age/Diagnosis - Age/Onset - 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 2022-12-20 09:10:27 +01:00 (CET) Date last edited N/A

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