Global Variome shared LOVD

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

Phenotype #0000082242 Individual ID 00104301 Associated disease RSMD Phenotype details neonatal hypotonia, weak suckling, lack of head control, facial weakness mild; WB SEPN1 faint; w15m Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis 17y Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2008-09-19 21:01:10 +02:00 (CEST) Date last edited 2012-03-09 19:02:29 +01:00 (CET)

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