Primary immunodeficiency syndrome due to p14 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections. The disease is Monarch Disease Ontology identifier MONDO_0012559 (primary immunodeficiency syndrome due to p14 deficiency). Also known as: primary immunodeficiency syndrome due to LAMTOR2 deficiency, primary immunodeficiency syndrome with short stature.