Phenotype #0000045727

Individual ID 00059220
Associated disease PN
Phenotype details poikiloderma, photosensitivity with blistering; atrophic scars on dorsum of limbs; pachyonychia on big toenails; palmoplantar keratosis; carious teeth; lachrymal duct obstruction; recurrent bronchopneumonitis; recurrent otitis media; leukopenia and neutropenia; maturation defects in bone marrow lineages; splenomegaly; chronic pulmonary infiltrates following chest X-rays.
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
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 17:08:16 +01:00 (CET)
Date last edited N/A

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