Phenotype #0000355930

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00471096
Associated disease	PPK
Diagnosis/Initial	palmoplantar keratoderma
Diagnosis/Definite	-
Phenotype details	see paper; ..., palmoplantar keratoderma, leukonychia, exuberant curly scalp hair; 2y-progressive development yellowish thickened scaly skin palms/soles ; 10y-19yy-toenail dystrophy; soles diffuse, verrucous hyperkeratosis deep fissuring; thick, bushy hair
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-12-16 10:47:27 +01:00 (CET)
Date last edited	N/A

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