primary immunodeficiency syndrome due to p14 deficiency
Findings
No curated finding names primary immunodeficiency syndrome due to p14 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Primary immunodeficiency syndrome due to p14 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.
Definition from the Mondo Disease Ontology (MONDO:0012559), read 2026-09-29. CC BY 4.0.
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Coarse facial featuresHPOHP:0000280
- Very frequent (80% to 99% of cases)
- Decreased total neutrophil countHPOHP:0001875
- Very frequent (80% to 99% of cases)
- Hypopigmentation of hairHPOHP:0005599
- Very frequent (80% to 99% of cases)
- ImmunodeficiencyHPOHP:0002721
- Very frequent (80% to 99% of cases)
- Partial albinismHPOHP:0007443
- Very frequent (80% to 99% of cases)
- Recurrent bronchopulmonary infectionsHPOHP:0006538
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LAMTOR2HGNC:29796
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
- A kind of
Other names
2 names
Resolves to: primary immunodeficiency syndrome due to p14 deficiency
- Also called
- primary immunodeficiency syndrome due to LAMTOR2 deficiencyprimary immunodeficiency syndrome with short stature