Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000319146 Individual ID 00428234 Associated disease ? Diagnosis/Initial fetal akinesia Diagnosis/Definite glycine encephalopathy Phenotype details termination pregnancy 27w; reduced fetal movements, retrognathia; contractures elbows, wrists, crossed fingers, hips, knees, talipes equinovarus (bilateral); retrognathia; signs of congenital myasthenic syndrome Inheritance Familial, autosomal recessive Age/Examination - 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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