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Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency
ORPHA:90023 · Disease · Disorder
HPO 表現型（共 7 項）
Very frequent (99-80%)(7)
- Coarse facial featuresHP:0000280
- Decreased total neutrophil countHP:0001875
- Hypopigmentation of hairHP:0005599
- ImmunodeficiencyHP:0002721
- Partial albinismHP:0007443
- Recurrent bronchopulmonary infectionsHP:0006538
- Short statureHP:0004322