Global Variome shared LOVD
EIF2B5 (eukaryotic translation initiation factor 2B...)
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Global Variome, with Curator vacancy
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Phenotype #0000338731
Individual ID
00449557
Associated disease
OPA9
Phenotype details
HP:0000364, HP:0000505, HP:0000540, HP:0000587, HP:0001249, HP:0001252, HP:0001270, HP:0001290, HP:0002011, HP:0002539, HP:0002977, HP:0007009, HP:0007367, HP:0008058, HP:0012758, HP:0040075
Diagnosis/Initial
-
Inheritance
Isolated (sporadic)
Diagnosis/Definite
OPA9
Age/Examination
04y (4 years)
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
Protein
-
Owner name
Marketa Wayhelova
Database submission
license
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
Created by
Marketa Wayhelova
Date created
2024-04-22 13:58:30 +02:00 (CEST)
Date last edited
2024-08-20 16:08:24 +02:00 (CEST)
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