Global Variome shared LOVD

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

Phenotype #0000144052 Individual ID 00183315 Associated disease - Phenotype details severe primary axonal peripheral neuropathy, optic atrophy, blindness, severe muscle weakness/wasting, wheelchair-bound Diagnosis/Initial peripheral neuropathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-10-22 17:54:06 +02:00 (CEST) Date last edited N/A

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