Global Variome shared LOVD
POLE (polymerase (DNA directed), epsilon, catalytic...)
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Curator:
Ian Tomlinson
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Phenotype #0000042931
Individual ID
00056313
Associated disease
HPE
Phenotype details
holoprosencephaly (HP:0002507), partial agenesis corpus callosum (HP:0001338), panhypopituitarism (HP:0000871), midline cleft lip/palate (HP:0008501), small omphalocele (HP:0001539), mild/moderate developmental delay (HP:0011342)
Diagnosis/Initial
-
Inheritance
Isolated (sporadic)
Diagnosis/Definite
-
Age/Examination
-
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
Protein
-
Owner name
Johan den Dunnen
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
Johan den Dunnen
Date created
2015-12-10 07:54:48 +01:00 (CET)
Date last edited
2015-12-13 01:59:44 +01:00 (CET)
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