Phenotype #0000292493

Individual ID 00399382
Associated disease EPM
Phenotype details see paper; ..., 3y-ataxia; 5y-myoclonus; 21y-generalized tonic clonic seizures; 7y-absence; drop attacks during fever; 2y-atypical absence; scoliosis, pes cavus; highest CK 2360 IU; 10y-wheelchair bound; 24y-dysphagia; 26y-PEG, respirator dependent
Diagnosis/Initial progressive myoclonus epilepsy
Inheritance Familial, autosomal recessive
Diagnosis/Definite EPM6
Age/Examination 29y (29 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 2022-01-20 12:49:03 +01:00 (CET)
Date last edited 2022-01-20 12:54:43 +01:00 (CET)

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