Global Variome shared LOVD

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

Phenotype #0000216393 Individual ID 00281815 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details 7m10d-died; reduced foetal movements, spontaneous delivery, cyanosis, no spontaneous respiration with Apgar score of 6/6, required ventilation throughout his life, progressive cardiac hypertrophy; MRI-brain cerebral, cerebellar and brain stem atrophy, simplified gyral pattern in the frontal lobes, haemorrhage from bilateral lateral ventricles; CSF lactate elevated (3.4 mM). Low oxygen consumption rate in skin fibroblasts but activities of CI, CII, CII+III, CIII and CIV were normal Inheritance Familial, autosomal recessive Age/Examination 7m10d 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 2020-02-03 22:05:46 +01:00 (CET) Date last edited N/A

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