Global Variome shared LOVD

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

Phenotype #0000185041 Individual ID 00222809 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Tourette syndrome, developmental regression, autism spectrum disorder, subjective vision loss; progressive muscle weakness, dysarthria, ataxia, joint pain, joint hypermobility, HLA-B27+, scoliosis, mitral valve prolapse; high forehead, wide face; parents: unaffected, paternal first cousin: attention deficit hyperactivity disorder, dyslexia, paternal aunt: attention deficit hyperactivity disorder, paternal great aunt: intellectual disability Inheritance Unknown Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Elena Repnikova Database submission license No license selected Created by Johan den Dunnen Date created 2019-07-01 19:06:49 +02:00 (CEST) Date last edited N/A

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