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 InternationalCreative Commons License
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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