Global Variome shared LOVD

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

Phenotype #0000346083 Individual ID 00457623 Associated disease ? Diagnosis/Initial newborn screening Diagnosis/Definite MTPD1 Phenotype details false negative newborn screening; onset infancy; motor neuropathy, sensory neuropathy; not walking independently Inheritance Familial, autosomal recessive Age/Examination 9y (9 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 2024-11-15 11:14:56 +01:00 (CET) Date last edited N/A

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