Phenotype #0000233322

Individual ID 00307899
Associated disease CLN5
Inheritance Familial, autosomal recessive
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis 06y
Age/Onset -
Phenotype/Onset -
Phenotype details Abnormal electroretinogram, Intellectual disability, Seizures, Mental deterioration, Cerebellar atrophy, Hypertonia, Gait disturbance, Myoclonus, Generalized tonic-clonic seizures, Frequent falls, Abnormal muscle tone, Cognitive impairment
Protein -
Owner name Corina-Marcela Rus
Database submission license No license selected
Created by Corina-Marcela Rus
Date created 2020-08-20 16:16:00 +02:00 (CEST)
Date last edited 2020-08-23 15:24:50 +02:00 (CEST)

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