Global Variome shared LOVD

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Phenotype #0000287334 Individual ID 00394128 Associated disease ? Diagnosis/Initial developmental delay Diagnosis/Definite PEERB Phenotype details unremarkable prenatal/perinatal development; 12m-developmental delay; no illness provoked regression; 12m-sit independently, never crawled, 2y-walk; severe expressive language delay; no tetraplegia; no dystonia, no seizures Inheritance Familial, autosomal recessive Age/Examination 38y (38 years) Age/Diagnosis - Age/Onset 00y12m Phenotype/Onset developmental delay 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 2021-11-30 16:42:10 +01:00 (CET) Date last edited N/A

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