Phenotype #0000292491

Individual ID 00399381
Associated disease EPM
Phenotype details see paper; ..., 1y-ataxia; 4y6m-myoclonus; nocturnal status myoclonica; 8y6m-generalized tonic clonic seizures; 14m-febrile convulsion; scoliosis, thickened webbing between second and third toe; highest CK 1135 IU; 11y-wheelchair bound
Diagnosis/Initial progressive myoclonus epilepsy
Inheritance Familial, autosomal recessive
Diagnosis/Definite EPM6
Age/Examination 10y (10 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 N/A

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