Phenotype #0000127240

Individual ID 00154504
Associated disease PN
Phenotype details poikiloderma, pachyonychia, palmoplantar hyperkeratosis, atrophic scars, sparse eyebrows, dental caries, failure to thrive, hypogonadism, delayed puberty, osteopenia, neutropenia, decreased NK cells, polyclonal hypergammaglobulinemia, recurrent pulmonary infections, bilateral bronchiectasis.
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Poikiloderma with Neutropenia
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 2018-03-02 11:42:13 +01:00 (CET)
Date last edited N/A

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