Phenotype #0000208126

Individual ID 00271548
Associated disease FAME
Diagnosis/Initial cortical myoclonic tremor and epilepsy
Diagnosis/Definite -
Phenotype details see paper; ..., 5/5 generalized tonic clonic seizure, 5/5 cortical tremor, 4/5 complex partial seizure, 3/5 myoclonic jerks, 3/5 aura, 2/5 neuropsychiatric symptoms, IQ 78-86
Inheritance Familial, autosomal recessive
Age/Examination 21y-39y
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 2019-12-20 10:33:36 +01:00 (CET)
Date last edited 2019-12-20 10:43:32 +01:00 (CET)

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