Global Variome shared LOVD

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

Phenotype #0000053372 Individual ID 00073635 Associated disease MYOP Phenotype details Muscular hypotrophy, cognitive and psychomotor delay, epilepsy, congenital cataract, scoliosis, lactic acidosis and deficiency of the mitochondrial respiratory chain Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 00y09m Phenotype/Onset - Protein - Owner name Sophie Nambot Database submission license No license selected Created by Sophie Nambot Date created 2016-06-13 10:55:05 +02:00 (CEST) Date last edited 2016-06-17 11:23:56 +02:00 (CEST)

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