Global Variome shared LOVD

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Phenotype #0000288858 Individual ID 00395659 Associated disease - Phenotype details 9y-died from respiratory failure after long airplane trip; birth normal; early development normal; speech normal until 25y but then deteriorated; normal motor development, 2y-deteriorated; 18m-onset seizures; absence seizure, generalized tonic-clonic seizure; no intellectual disability, then delayed; EEG generalized epileptiform activity, slow background; 7y-MRI mild cerebellar atrophy; nerve biopsy with severe axonal loss; 2y6m-unsteady gait; phenotype exacerbated by illness and/or stress; repeated pneumonia, repeated cardiac arrest, profound type II muscle fiber atrophy Diagnosis/Initial neurodegenerative disorder Inheritance Familial, autosomal recessive Diagnosis/Definite CONDSIAS Age/Examination 9y (9 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 2021-12-08 21:39:46 +01:00 (CET) Date last edited N/A

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