Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000233313 Individual ID 00307890 Associated disease CLN5 Inheritance Familial, autosomal recessive Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 06y05m Age/Onset - Phenotype/Onset - Phenotype details Intellectual disability, Ataxia, Gait ataxia, Neurological speech impairment, Abnormality of the cerebral white matter, Abnormality of the periventricular white matter, Abnormality of the cerebral cortex, Abnormal myelination, Abnormality of movement Protein - Owner name Corina-Marcela Rus Database submission license No license selected Created by Corina-Marcela Rus Date created 2020-08-20 08:37:39 +02:00 (CEST) Date last edited 2020-08-23 15:28:10 +02:00 (CEST)

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