Global Variome shared LOVD
KLKB1 (kallikrein B, plasma (Fletcher factor) 1)
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Curator:
Christian Drouet
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Phenotype #0000292893
Individual ID
00399853
Associated disease
craniosynost.
Phenotype details
see paper; ..., craniosynostosis; severe branchio-otic syndrome; affected sutures sgittal, lambdoid (left, right); speech/language delay, ear pits/tags, unilateral neck sinus, sensorineural hearing loss
Diagnosis/Initial
craniosynostosis
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
2022-01-23 14:40:45 +01:00 (CET)
Date last edited
N/A
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