Global Variome shared LOVD

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

Phenotype #0000221943 Individual ID 00288206 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details developmental delay, cerebellar hypoplasia, cerebellar atrophy, myopathy, hypotonia, motor delay, ataxia, tremor Inheritance Familial 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 2020-02-16 14:03:09 +01:00 (CET) Date last edited N/A

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