Global Variome shared LOVD

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Phenotype #0000319141 Individual ID 00428229 Associated disease ? Diagnosis/Initial fetal akinesia Diagnosis/Definite glycine encephalopathy Phenotype details termination pregnancy 21w; reduced fetal movements, polyhydramnios, cystic structures in knees and elbows, increased nuchal translucency; multiple joint contractures, talipes equinovarus (bilateral); autopsy not performed Inheritance Familial, autosomal recessive Age/Examination <0d 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 2022-12-24 16:09:43 +01:00 (CET) Date last edited N/A

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