primary immunodeficiency syndrome due to p14 deficiency
primary immunodeficiency syndrome due to LAMTOR2 deficiency
exact
primary immunodeficiency syndrome with short stature
exact
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
SPBC1778.05c