Phenotype #0000331314

Individual ID 00441931
Associated disease ?
Diagnosis/Initial myoclonus
Diagnosis/Definite -
Phenotype details see paper; ..., ataxia; dystonia; myoclonus; action tremor; intellectual disability
Inheritance Familial, autosomal recessive
Age/Examination 28y (28 years)
Age/Diagnosis -
Age/Onset 3y
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2023-11-15 14:04:23 +01:00 (CET)
Date last edited N/A

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