Phenotype #0000044574

Individual ID 00057924
Associated disease PN
Phenotype details Poikiloderma, neutropenia, plantar hyperkeratosis with desquamation, pachyonychia, caries tendency, saddle nose, widening of femoral metaphysis, recurrent pulmonary infections, low stature (<3rd centile)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis 10y
Age/Onset 00y06m
Phenotype/Onset -
Protein -
Owner name Ludovica Volpi