Global Variome shared LOVD

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

Phenotype #0000233284 Individual ID 00307858 Associated disease CLN1 Inheritance Familial, autosomal recessive Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 02y07m Age/Onset 01y Phenotype/Onset - Phenotype details Microcephaly, Cerebellar atrophy, Cerebral cortical atrophy, Developmental regression, Brain atrophy Protein - Owner name Corina-Marcela Rus Database submission license No license selected Created by Corina-Marcela Rus Date created 2020-08-19 23:25:35 +02:00 (CEST) Date last edited 2020-08-23 15:24:07 +02:00 (CEST)

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