Phenotype #0000044571

Individual ID 00057921
Associated disease PN
Phenotype details poikiloderma, non cyclic neutropenia, pachyonichia; midface hypoplasia, depressed nasal bridge, mild prognathism, frontal bossing, carious teeth, hyperlaxity of fingers, splenomegalia
Diagnosis/Initial -
Inheritance Familial
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis 21y
Age/Onset 6m
Phenotype/Onset -
Protein -
Owner name Ludovica Volpi