Global Variome shared LOVD

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Phenotype #0000321826 Individual ID 00431221 Associated disease MYOP Phenotype details developmental regression; developmental delay/intellectual disability; seizures; no movement disorder, occasional facial grimacing; MRI brain bilateral symmetrical atrophy and high-signal intensity involving posterior and lateral putamen, exaggerated iron deposition at the bilateral globus pallidus and substantia nigra; no hyperammonemia; ECG normal Diagnosis/Initial encephalomyopathy Inheritance Familial, autosomal recessive Diagnosis/Definite MECREN Age/Examination 13y6m (13 years, 6 months) Age/Diagnosis - Age/Onset 10m 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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