primary immunodeficiency syndrome due to p14 deficiency
Primary immunodeficiency syndrome due to p14 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.
MONDO:0015134
constitutional neutropenia
is_a
primary immunodeficiency syndrome due to LAMTOR2 deficiency
exact
primary immunodeficiency syndrome with short stature
exact
SPBC1778.05c