Phenotype #0000294250

Individual ID 00401207
Associated disease EPM
Phenotype details 2y-clumsiness, frequently falling, gait disorder after intercurrent illness; 3y-ataxia; 4y-myoclonus; 6y/7y-seizures; pes cavus; wheelchair bound
Diagnosis/Initial progressive myoclonus epilepsy
Inheritance Familial, autosomal recessive
Diagnosis/Definite EPM6
Age/Examination 46y (46 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 2022-01-28 17:16:23 +01:00 (CET)
Date last edited N/A

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