Global Variome shared LOVD

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Phenotype #0000319318 Individual ID 00428413 Associated disease MTDPS4A Phenotype details Status epilepticus, Refractory drug response, Developmental stagnation at onset of seizures, Hemiparesis, Myoclonus, Decreased liver function, Fatal liver failure in infancy, Seizure, Developmental stagnation at onset of seizures, Infantile muscular hypotonia Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 01y (1 year) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2023-01-03 09:39:52 +01:00 (CET) Date last edited 2023-01-03 13:17:54 +01:00 (CET)

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