Phenotype #0000233285

Individual ID 00307859
Associated disease CLN1
Inheritance Familial, autosomal recessive
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis 04y11m
Age/Onset 00y08m
Phenotype/Onset -
Phenotype details Microcephaly, Dementia, Cerebellar atrophy, Bulbar palsy, Spastic tetraparesis, Dysphagia, Cerebral atrophy, Generalized myoclonic seizures, Neurodegeneration, Developmental regression, Hyperkinesis, Brain atrophy
Protein -
Owner name Corina-Marcela Rus
Database submission license No license selected
Created by Corina-Marcela Rus
Date created 2020-08-19 23:31:08 +02:00 (CEST)
Date last edited 2020-08-23 15:23:54 +02:00 (CEST)

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