Global Variome shared LOVD

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Phenotype #0000036704 Individual ID 00050086 Associated disease ACCPN Phenotype details see paper; feeding difficulties, hypotonia, areflexia upper/lower extremities, delayed motor milestones, mental retardation, seizures, mild dysmorphic feature complete; MRI agenesis of the corpus callosum, enlargement lateral ventricles, deformation gyrus cinguli Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 01y (1 year) Age/Diagnosis - Age/Onset 00y00m13d Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-11-07 12:34:19 +01:00 (CET) Date last edited 2015-09-19 21:28:57 +02:00 (CEST)

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