Global Variome shared LOVD

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Phenotype #0000325317 Individual ID 00435079 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., no cleft lip/palate; no craniosynostosis; hypertelorism; no micrognathia; no congenital heart disease; developmental delay; infantile spasms/epilepsy; limb defects; abnormal muscle tone Inheritance Isolated (sporadic) Age/Examination 24y (24 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 2023-05-05 19:15:22 +02:00 (CEST) Date last edited N/A

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