Global Variome shared LOVD
NALCN (sodium leak channel, non-selective)
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Global Variome, with Curator vacancy
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Phenotype #0000286215
Individual ID
00392974
Associated disease
PC
Diagnosis/Initial
pachyonychia congenita
Diagnosis/Definite
PC3
Phenotype details
pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, pilosebaceous cysts, follicular hyperkeratosis,
Inheritance
Isolated (sporadic)
Age/Examination
-
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
Owner name
Johan den Dunnen
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
Johan den Dunnen
Date created
2021-11-25 17:22:01 +01:00 (CET)
Date last edited
N/A
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