Global Variome shared LOVD

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Phenotype #0000351790 Individual ID 00466425 Associated disease KDVS Phenotype details Hypotonia, Intellectual disability, mild, Seizure, Abnormal brain morphology, Multicystic kidney dysplasia, Aortic regurgitation, Joint hypermobility, Pes valgus, Scoliosis, Bicuspid aortic valve, Mitral valve prolapse, Abnormal ascending aorta morphology, Hypoplasia of the corpus callosum, Strabismus, Astigmatism, Arachnodactyly, Periventricular leukomalacia, Infantile encephalopathy Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2025-09-01 14:01:45 +02:00 (CEST) Date last edited 2025-09-05 09:41:41 +02:00 (CEST)

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