Global Variome shared LOVD

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

Phenotype #0000221958 Individual ID 00288221 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details absent speech, agitation, asymmetric ventricles, autistic behavior, brain atrophy, developmental delay, dilation of lateral ventricles, dysmetria, dystonia, hypotonia, increased variability in muscle fiber diameter, motor delay, muscle weakness, pes valgus, poor coordination, poor suck, tall stature Inheritance Isolated (sporadic) Age/Examination 20y (20 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-02-16 14:03:09 +01:00 (CET) Date last edited N/A

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