Phenotype #0000233319

Individual ID 00307896
Associated disease CLN8
Inheritance Familial, autosomal recessive
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis 04y07m
Age/Onset 03y05m
Phenotype/Onset -
Phenotype details Ptosis, Dementia, Seizures, Ataxia, Hemiparesis, Gait disturbance, Encephalopathy, Generalized-onset seizure, Developmental regression, Aphasia, Leukodystrophy, Abnormal myelination, Neurodevelopmental abnormality
Protein -
Owner name Corina-Marcela Rus
Database submission license No license selected
Created by Corina-Marcela Rus
Date created 2020-08-20 15:18:37 +02:00 (CEST)
Date last edited 2020-08-23 15:25:20 +02:00 (CEST)

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