Global Variome shared LOVD
MYBPC3 (myosin binding protein C, cardiac)
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Curators:
Global Variome, with Curator vacancy
and
Johan den Dunnen
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Phenotype #0000037012
Individual ID
00050400
Associated disease
?
Diagnosis/Initial
-
Diagnosis/Definite
-
Phenotype details
progressive microcephaly, deeply set eye, palpebral edema, short nose, narrow mouth, depressed nasal bridge, full cheeks, small feet, short palm, abnormality of the tragus
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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