Global Variome shared LOVD

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

Phenotype #0000256871 Individual ID 00361466 Associated disease ? Diagnosis/Initial polyneuropathy Diagnosis/Definite - Phenotype details OFC 51cm (<1), length 146.3cm (<1), weight 36.5kg (<1); delayed motor milestones, 3y-walk; 2y-delayed speech development; mild intellectual disability; normal eye movements; no dysarthria; scoliosis; MRI head cerebral atrophy Inheritance Familial, autosomal recessive Age/Examination 20y (20 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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