Global Variome shared LOVD

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

Phenotype #0000233279 Individual ID 00307854 Associated disease CLN1 Inheritance Familial, autosomal recessive Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 00y06m Age/Onset - Phenotype/Onset - Phenotype details Optic disc pallor, Delayed speech and language development, Muscular hypotonia, Dystonia, Cerebral cortical atrophy, Exaggerated startle response, Developmental regression, Myoclonic spasms, Brain atrophy, Abnormality of movement Protein - Owner name Corina-Marcela Rus Database submission license No license selected Created by Corina-Marcela Rus Date created 2020-08-19 22:36:06 +02:00 (CEST) Date last edited 2020-08-23 15:22:57 +02:00 (CEST)

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