Global Variome shared LOVD

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Phenotype #0000243020 Individual ID 00324477 Associated disease ? Diagnosis/Initial congenital hypotonia Diagnosis/Definite NLSDM Phenotype details see paper; ..., congenital hypotonia, mother polyhydramnios during pregnancy, delayed acquisition of motor milestones, hepatomegaly, elevated creatine kinase levels, lipid accumulation muscle fibers, Jordans’ anomaly blood smear Inheritance Familial, autosomal recessive Age/Examination 00y38m (38 months) 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 2020-12-14 18:41:30 +01:00 (CET) Date last edited N/A

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