Global Variome shared LOVD

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

Phenotype #0000233283 Individual ID 00307857 Associated disease CLN1 Inheritance Familial, autosomal recessive Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 02y Age/Onset 00y04m Phenotype/Onset - Phenotype details Microcephaly, Motor delay, Frequent falls, Developmental regression, Bruxism Protein - Owner name Corina-Marcela Rus Database submission license No license selected Created by Corina-Marcela Rus Date created 2020-08-19 23:16:41 +02:00 (CEST) Date last edited 2020-08-23 15:23:16 +02:00 (CEST)

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