Global Variome shared LOVD

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Phenotype #0000279464 Individual ID 00385669 Associated disease MDM Phenotype details see paper; ..., diffuse palmoplantar keratodermas appearing shortly after birth (3–10m); <2y-transgressive pachyderma, hyperhidrosis palms and soles; transgressive hyperkeratosis progressed resulting in characteristic ‘glove and stocking’ distribution; nNail dystrophy with subungual hyperkeratosis, slight contractures fingers, conical distal phalanges Diagnosis/Initial Mal de Meleda Inheritance Familial, autosomal recessive 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 2021-10-13 13:59:57 +02:00 (CEST) Date last edited N/A

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