Phenotype #0000170579

Individual ID 00225464
Associated disease -
Phenotype details 4y-died in sleep; birth normal; early development normal; spoke in sentences but then deteriorated; normal motor development but then deteriorated; 18m-onset seizures; generalized tonic-clonic seizure; no intellectual disability, then delayed; phenotype exacerbated by illness and/or stress
Diagnosis/Initial neurodegenerative disorder
Inheritance Familial, autosomal recessive
Diagnosis/Definite CONDSIAS
Age/Examination 04y (4 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 21:27:22 +01:00 (CET)

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