Phenotype #0000066686

Individual ID 00087086
Associated disease CLN4B
Phenotype details see paper; ..., ceroid lipofuscinosis, neuronal, autosomal-dominant; myoclonic epilepsy, generalized tonic-clonic seizures, progressive cognitive deterioration with depression; followed by progressive motor neurological symptoms; granular osmiophilic deposits
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Sara Mole
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2011-08-23 13:46:04 +02:00 (CEST)
Date last edited 2017-05-19 17:20:03 +02:00 (CEST)

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