Phenotype #0000068448

Individual ID 00089060
Associated disease PN
Phenotype details poikiloderma, neutropenia, short stature, hypogonadotropic hypogonadism (on hormonal replacement therapy) and noncaseating granuloma involving the lungs with interstitial lung disease and bronchiectasis.
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination ?
Age/Diagnosis ?
Age/Onset ?
Phenotype/Onset -
Protein -
Owner name Elisa Adele Colombo