Global Variome shared LOVD

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

Phenotype #0000256866 Individual ID 00361461 Associated disease ? Diagnosis/Initial polyneuropathy Diagnosis/Definite - Phenotype details OFC 55.9cm (<20th), length 121.9cm (<1), weight 70kg (> 50th); delayed motor milestones, 8y-walk; 2y-delayed speech development; moderate intellectual disability; strabismus; dysarthria; scoliosis; lower limb weakness, feet equinovarus, hammer toes; MRI head cerebral atrophy (bilateral) Inheritance Familial, autosomal recessive Age/Examination 34y (34 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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