Global Variome shared LOVD

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Phenotype #0000256875 Individual ID 00361470 Associated disease ? Diagnosis/Initial polyneuropathy Diagnosis/Definite - Phenotype details see paper; ..., OFC (50th), length 125cm (5th), weight 25kg (5th–10th), BMI 17.28; delayed motor milestones, 2y-walk; delayed speech development,  9y-single words; mild intellectual disability (IQ65); normal eye movements; spondylolisthesis; no lower limb weakness, no feet equinovarus, no hammer toes; MRI head normal; failure to thrive Inheritance Familial, autosomal recessive Age/Examination 11y (11 years) 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 2021-04-07 09:00:28 +02:00 (CEST) Date last edited N/A

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