Phenotype #0000069482

Individual ID 00090109
Associated disease PN
Phenotype details poikiloderma; neutropenia since Birth; recurrent sinopulmonary infections; hyperkeratosis; calcinosis cutis; nail dystrophy
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 02y? (approximately 2 years)
Age/Diagnosis -
Age/Onset 00y02m
Phenotype/Onset -
Protein -
Owner name Elisa Adele Colombo