Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000355929 Individual ID 00466203 Associated disease PPK Diagnosis/Initial palmoplantar keratoderma Diagnosis/Definite - Phenotype details see paper; ..., 2y-palmoplantar keratoderma palms/soles; bilateral hearing loss; hyperkeratosis heels/lateral face both soles/weight-bearing areas, hands lesions mainly located in fingertips; no hair anomalies, no tooth abnormalities Inheritance Familial, autosomal recessive Age/Examination 33y (33 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Mónica Mora-Gómez Database submission license No license selected Created by Johan den Dunnen Date created 2025-12-16 10:39:24 +01:00 (CET) Date last edited 2025-12-16 10:39:53 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.