Global Variome shared LOVD

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

Phenotype #0000045726 Individual ID 00059219 Associated disease PN Phenotype details poikiloderma, photosensitivity with blistering; atrophic scars on dorsum of limbs; pachyonychia on big toenails; palmoplantar keratosis; verrucous lesions; milia; carious teeth; lachrymal duct obstruction; recurrent bronchopneumonitis; recurrent otitis media; leukopenia and neutropenia; myeloid abnormalities; splenomegaly; chronic pulmonary infiltrates following chest X-rays. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 00y04m (4 months) Age/Diagnosis 08y Age/Onset - Phenotype/Onset - Protein - Owner name Elisa Adele Colombo Database submission license No license selected Created by Elisa Adele Colombo Date created 2016-03-03 16:37:05 +01:00 (CET) Date last edited N/A

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