Global Variome shared LOVD

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Phenotype #0000170582 Individual ID 00225467 Associated disease - Phenotype details birth normal; early development normal; normal speech; normal motor development, 2y-deteriorated; generalized tonic-clonic seizure with illness; mild intellectual disability (IQ 60); 3y-EEG mild slowing background activity; 4y-MRI mild cerebellar atrophy; 4y-normal muscle biopsy; 2y6m-unsteady gait; phenotype exacerbated by illness and/or stress; asthma Diagnosis/Initial neurodegenerative disorder Inheritance Familial, autosomal recessive Diagnosis/Definite CONDSIAS Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-02-17 09:44:27 +01:00 (CET) Date last edited 2021-12-08 21:20:13 +01:00 (CET)

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