Global Variome shared LOVD

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

Phenotype #0000242373 Individual ID 00320360 Associated disease ? Diagnosis/Initial congenital neuropathy Diagnosis/Definite - Phenotype details birth 33w; died 16w; polyhydramnios; reduced fetal movements; soft cry; foot deformities; ankle/knee contractures at birth; areflexia; hypotonia; head lag; facial weakness; feeding difficulties; tongue fasciculations; MRI brain/spine 2m-normal Inheritance Familial, autosomal recessive Age/Examination 4m 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 2020-11-27 15:59:18 +01:00 (CET) Date last edited N/A

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