Global Variome shared LOVD

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

Phenotype #0000124688 Individual ID 00152345 Associated disease MDC Phenotype details Cortical dysplasia, hydrocephalus, agenesis CC, flat pons, cerebellar hypoplasia; CPK 6x Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite - Inheritance Unknown Age/Examination - Age/Diagnosis 20d Age/Onset - Phenotype/Onset - Protein IHC reduced DAG1 Owner name Rosário dos Santos Database submission license No license selected Created by Rosário dos Santos Date created 2008-06-06 14:27:45 +02:00 (CEST) Date last edited 2013-02-01 19:44:12 +01:00 (CET)

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