Global Variome shared LOVD

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

Phenotype #0000024896 Individual ID 00028854 Associated disease PVNH1 Phenotype details indistinguishable from females have FLN1 mutation. Symmetrical nodules, enlarged cisterna magna behind cerebellum, mild to moderate seizure, no MR Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Yu Sun Database submission license No license selected Created by Yu Sun Date created 2010-04-02 16:29:25 +02:00 (CEST) Date last edited N/A

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