Phenotype #0000252760

Individual ID 00334877
Associated disease DD
Phenotype details Onset in late infancy of ataxia (mild and non-progressive), then TCS from age 17 and mild action myoclonus noted age 29. Mild learning difficulties in childhood, normal cognition. MRI: mild cerebral, cerebellar and brainstem atrophy.
Diagnosis/Initial Unverricht-Lundborg disease like
Inheritance Isolated (sporadic)
Diagnosis/Definite DEDSM
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Carolina Courage
Database submission license No license selected
Created by Johan den Dunnen
Date created 2021-03-03 09:57:09 +01:00 (CET)
Date last edited 2021-04-14 09:11:45 +02:00 (CEST)

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