Global Variome shared LOVD

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

Phenotype #0000127241 Individual ID 00154505 Associated disease PN Phenotype details generalized poikiloderma, pachyonychia, palmoplantar hyperkeratosis, atrophic scars, failure to thrive, photosensitivity, hypogonadism, delayed peberty, neutropenia, decreased number of CD8 cells, bilateral bronchiectasis. Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 00y01m Phenotype/Onset - Protein - Owner name Elisa Adele Colombo Database submission license No license selected Created by Elisa Adele Colombo Date created 2018-03-02 11:51:57 +01:00 (CET) Date last edited N/A

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