Global Variome shared LOVD

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

Phenotype #0000156842 Individual ID 00037217 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details MGZ 49300: hypotonia, high lactate level, myopathology similar to spinal muscular atrophy; MGZ 57848: suspected mitochondrial myopathy; MGZ 67537: suspected Leigh syndrome; MGZ 71479: the above-mentioned patient has clinical findings indicative of Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2015-04-02 13:01:39 +02:00 (CEST) Date last edited N/A

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