Global Variome shared LOVD
B3GAT1 (beta-1,3-glucuronyltransferase 1 (glucuron...))
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Global Variome, with Curator vacancy
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Phenotype #0000037094
Individual ID
00050482
Associated disease
?
Diagnosis/Initial
-
Diagnosis/Definite
-
Phenotype details
long face, frontal bossing, abnormality of limb bone morphology, dental crowding, abnormality of the palmar creases, joint hypermobility, pectus excavatum, delayed speech and language development, cleft palate, pes planus
Inheritance
Isolated (sporadic)
Age/Examination
-
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
2015-09-27 16:16:40 +02:00 (CEST)
Date last edited
N/A
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