Phenotype #0000257428

Individual ID 00334911
Associated disease SMAPME
Phenotype details Onset age 10 of multifocal action and rest myoclonus, on a background of normal development and early severe hearing impairment (4y) . Subsequent progressive limb and bulbar weakness, tonic-clonic seiures (16 yr) and late cognitive decline. Rapidly progressive, death age 19.
Diagnosis/Initial Unverricht-Lundborg disease like
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license No license selected
Created by Johan den Dunnen
Date created 2021-04-14 09:14:49 +02:00 (CEST)
Date last edited N/A

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