Phenotype #0000068450

Individual ID 00089040
Associated disease PN
Phenotype details poikiloderma, nail dystrophy, abnormal ear, short stature, developmental delay, low white blood cells, MDS changes
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Elisa Adele Colombo