Phenotype #0000230249

Individual ID 00303165
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Phenotype details see paper; ..., 13m-onset siezures, absences associated with eye and head deviation; myoclonic absences, atypical absences, drop attacks with myoclonic jerks; epilepsy treatment resistant; severe intellectual disability, speech impairment; autistic features, anxious behavior
Age/Examination 01y01m (1 year, 1 month)
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 2020-06-07 14:57:45 +02:00 (CEST)
Date last edited N/A

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