Global Variome shared LOVD

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

Phenotype #0000221945 Individual ID 00288208 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details developmental delay, impaired gait, cognitive impairment, neuropathy, ataxia, demyelination, dysmorphic features, astigmatism, polyneuropathy, leukodystrophy Inheritance Familial, autosomal recessive Age/Examination 21y (21 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 2020-02-16 14:03:09 +01:00 (CET) Date last edited N/A

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