Phenotype #0000170583

Individual ID 00225468
Associated disease -
Phenotype details 6y-died in sleep; birth normal; early development normal; normal until 1.5y but then deteriorated with difficulty speaking; normal motor development, 1y-deteriorated; 24m-onset seizures; multifocal seizure, generalized tonic-clonic seizure; no intellectual disability, then stagnated; EEG generalized epileptiform activity, slow background; 4y-EMG normal; 1y6m-unsteady gait; phenotype exacerbated by illness and/or stress; progressive weakness, tremors, frequent falling
Diagnosis/Initial neurodegenerative disorder
Inheritance Familial, autosomal recessive
Diagnosis/Definite CONDSIAS
Age/Examination 06y (6 years)
Age/Diagnosis -
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 2019-02-17 09:44:27 +01:00 (CET)
Date last edited 2021-12-08 21:18:15 +01:00 (CET)

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