Phenotype #0000201550

Individual ID 00263105
Associated disease CLN
Phenotype details generalized tonic–clonic seizures (HP:0002069), myoclonus (HP:0001336), no speech deterioration (-HP:0002167), no ataxia (-HP:0001251), no dementia (-HP:0000726)
Diagnosis/Initial Kufs disease
Inheritance Familial, autosomal dominant
Diagnosis/Definite CLN-4B
Age/Examination -
Age/Onset 30y
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 2019-08-22 12:04:20 +02:00 (CEST)
Date last edited N/A

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