Global Variome shared LOVD

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

Phenotype #0000321825 Individual ID 00431220 Associated disease MYOP Diagnosis/Initial encephalomyopathy Diagnosis/Definite MECREN Phenotype details developmental regression; developmental delay/intellectual disability; no seizures; choreoathetosis; MRI brain bilateral symmetrical hyperintensities involving basal ganglia; hyperammonemia 205 umol/L; ECG poor left ventricular systolic function Inheritance Familial, autosomal recessive Age/Examination 17m Age/Diagnosis - Age/Onset 14m Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-02-04 16:19:44 +01:00 (CET) Date last edited N/A

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