Global Variome shared LOVD

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Phenotype #0000270818 Individual ID 00375604 Associated disease ? Diagnosis/Initial multisystem disorder, recurring autoinflammation Diagnosis/Definite - Phenotype details 4y-died from infectious illness; uncomplicated pregnancy; muscular hypotonia; developmental delay; dystrophy; postnatal short stature; progredient microcephaly; thin corpus callosum, cerebral atrophy, left ventricular dilatation; epilepsy; strabism; hepatomegaly; liver: inclusions in dilated hepatocytes (PAS and PAS+ after amylase digestion), cirrhotic involution; first diagnosis: enzymatic activity of glycogen branching enzyme in the liver not detected; no cardiac anomalies; recurrent infectious illness, elevated CRP; severe osteopenia Inheritance Familial, autosomal recessive Age/Examination 4y (4 years) Age/Diagnosis - Age/Onset 6m 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 2021-06-12 22:50:35 +02:00 (CEST) Date last edited N/A

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