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 InternationalCreative Commons License
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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