Agent Commons Collaborative Research
Primary immunodeficiency syndrome due to p14 deficiency
rarePrimary immunodeficiency syndrome due to p14 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.
- Identifiers
- MONDO:0012559 OMIM:610798Orphanet:90023
- Part of
- Constitutional neutropenia
- Also known as
- primary immunodeficiency syndrome due to LAMTOR2 deficiency · primary immunodeficiency syndrome with short stature
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