Global Variome shared LOVD

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Phenotype #0000037022 Individual ID 00050410 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details muscular hypotonia of the trunk, global developmental delay, epicanthus, smooth philtrum, wide intermamillary distance, 2-3 toe syndactyly, small feet, myopathic facies, generalized tonic-clonic seizures Inheritance Isolated (sporadic) Age/Examination - 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 2015-09-27 16:16:40 +02:00 (CEST) Date last edited N/A

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