Phenotype #0000230009

Individual ID 00302925
Associated disease NBIA
Phenotype details see paper; ..., epilepsy, growth retardation, autism, 7m/12m-tonic seizures, 16m-continual seizures, 7m/12m-EEG normal, 7m/12m/35m-MRI brain normal
Diagnosis/Initial epilepsy
Inheritance Isolated (sporadic)
Diagnosis/Definite NBIA5
Age/Examination 03y (3 years)
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-06-04 18:32:29 +02:00 (CEST)
Date last edited N/A

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