Global Variome shared LOVD
EPHX2 (epoxide hydrolase 2, cytoplasmic)
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Curator:
Global Variome, with Curator vacancy
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Phenotype #0000037292
Individual ID
00050680
Associated disease
?
Diagnosis/Initial
-
Diagnosis/Definite
-
Phenotype details
intrauterine growth retardation, febrile seizures, feeding difficulties in infancy, microcephaly, global developmental delay, deeply set eye, flat nose, shoulder dimples, skin dimples, macrotia, inverted nipples, pes planus, 2-3 toe syndactyly
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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