Global Variome shared LOVD

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Phenotype #0000359556 Individual ID 00474763 Associated disease ? Diagnosis/Initial - Diagnosis/Definite MPAPA Phenotype details see paper; ..., aborted fetus; megalencephaly; MRI brain ventriculomegaly, no hydrocephalus, no bilateral perisylvian polymicrogyria, no corpus callosum dysplasia; postaxial polydactyly, no toe syndactyly, no brachymesophalangy, no tracheal dysplasia; no gastrointestinal atresia Inheritance Isolated (sporadic) Age/Examination <00y00m00d (before ) 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 2026-03-25 09:44:26 +01:00 (CET) Date last edited N/A

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