Global Variome shared LOVD
PEX1 (peroxisomal biogenesis factor 1)
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Curator:
Nancy Braverman
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Phenotype #0000286382
Individual ID
00393141
Associated disease
PC
Diagnosis/Initial
pachyonychia congenita
Diagnosis/Definite
PC2
Phenotype details
pachyonychia congenita, 1m-thickened toenails, 1m-thickened fingernails, 7y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, steatocystoma cysts, pilosebaceous cysts
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 19:32:29 +01:00 (CET)
Date last edited
N/A
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