Global Variome shared LOVD
GBA2 (glucosidase, beta (bile acid) 2)
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Global Variome, with Curator vacancy
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Phenotype #0000037220
Individual ID
00050608
Associated disease
?
Diagnosis/Initial
-
Diagnosis/Definite
-
Phenotype details
global developmental delay, autism, intrauterine growth retardation, delayed speech and language development, joint contractures of the 5th finger, seizures, microcephaly, brachycephaly, generalized hypotonia, deeply set eye, radioulnar synostosis
Inheritance
Unknown
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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