Global Variome shared LOVD

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Phenotype #0000337604 Individual ID 00448416 Associated disease EIEE Phenotype details see paper; ..., ; early infantile epileptic encephalopathy, severe neurologic developmental delay, nystagmus, retinal degeneration, cardiac conduction disorder (sinus arrhythmia, normal PR/QTc intervals and sinus bradycardia with frequent sinus pauses up to 3.3sec without structural abnormalities) Diagnosis/Initial early infantile epileptic encephalopathy Inheritance Familial, autosomal recessive Diagnosis/Definite LDMLS1 Age/Examination 2y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Intellectual_dis - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-03-07 21:18:41 +01:00 (CET) Date last edited N/A

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