Phenotype #0000288852

Individual ID 00395653
Associated disease -
Phenotype details 2y-died in sleep; birth normal; early development normal; 2y-speech few words; normal motor development until death; 19m-onset seizures; generalized tonic-clonic seizure; no intellectual disability until death; phenotype exacerbated by illness and/or stress;
Diagnosis/Initial neurodegenerative disorder
Inheritance Familial, autosomal recessive
Diagnosis/Definite CONDSIAS
Age/Examination 2y (2 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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