Phenotype #0000288861

Individual ID 00395662
Associated disease -
Phenotype details birth normal; early development normal; speaks only a few words; normal motor development, 1.5y-deteriorated; 36m-onset seizures; multifocal seizure, generalized tonic-clonic seizure; no intellectual disability, then stagnated; EEG normal; 3y-MRI normal; 4y-axonal polyneuropathy; 1y6m-unsteady gait; phenotype exacerbated by illness and/or stress; progressive weakness, progressive external ophthalmoplegia
Diagnosis/Initial neurodegenerative disorder
Inheritance Familial, autosomal recessive
Diagnosis/Definite CONDSIAS
Age/Examination 3y (3 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 2021-12-08 21:39:46 +01:00 (CET)
Date last edited N/A

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