Global Variome shared LOVD

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Phenotype #0000050875 Individual ID 00064675 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper: OXPHOS deficiency in fibroblasts, not in muscle; hypotonia, microcephaly, small frontal cortex, thin corpus callosum, delayed myelination, encephalopathy, lactic acidosis; 2y-deceased of respiratory insufficiency secondary to pneumonia; ... Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 00y00m02d Phenotype/Onset feeding problems, reduced consciousness 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 2016-05-09 14:34:48 +02:00 (CEST) Date last edited 2016-06-11 11:58:28 +02:00 (CEST)

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