Global Variome shared LOVD

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

Phenotype #0000242199 Individual ID 00320153 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Ataxia (HP:0001251); Global developmental delay (HP:0001263); Motor delay (HP:0001270); Myoclonus (HP:0001336); Absent speech (HP:0001344) Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name IMGAG Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by IMGAG Date created 2020-11-23 17:38:14 +01:00 (CET) Date last edited 2020-12-08 10:25:34 +01:00 (CET)

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