Global Variome shared LOVD

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

Phenotype #0000321833 Individual ID 00431228 Associated disease MYOP Phenotype details developmental regression; developmental delay/intellectual disability; no seizures; no movement disorder; MRI brain bilateral symmetrical T2 hyperintensity corpus striatum; no hyperammonemia; ECG normal Diagnosis/Initial encephalomyopathy Inheritance Familial, autosomal recessive Diagnosis/Definite MECREN Age/Examination 3y (3 years) Age/Diagnosis - Age/Onset 6m 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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