Global Variome shared LOVD

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

Phenotype #0000256864 Individual ID 00361459 Associated disease ? Diagnosis/Initial polyneuropathy Diagnosis/Definite - Phenotype details OFC 53.4cm (<20th), length 143.3cm (<1), weight 31.8kg (<1); delayed motor milestones, 2y-walk (with aid); 3y-delayed speech development; moderate intellectual disability; strabismus; dysarthria; scoliosis; lower limb weakness, feet equinovarus, hammer toes; MRI head normal Inheritance Familial, autosomal recessive Age/Examination 14y (14 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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