Phenotype #0000201535

Individual ID 00263090
Associated disease CLN
Phenotype details generalized tonic–clonic seizures (HP:0002069), myoclonus (HP:0001336), speech deterioration (HP:0002167), ataxia (HP:0001251), dementia (HP:0000726)
Diagnosis/Initial Kufs disease
Inheritance Familial, autosomal dominant
Diagnosis/Definite CLN-4B
Age/Examination -
Age/Onset 32y
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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