| Patient no | Age of onset,manifestation | Clinical features(age at evaluation) | CT imaging(age at examination) | Mutational analysis | Outcomes (current age) | |
| 1 | Newborn, respiratory failure | Ta, Cr, Wh, Cl, Hy (4 years) | GGO, ST, PE (2 weeks) | Nt622C>T (R208W) | Nt2279T>G (M760R) | Transplanted (died) (5 years)* |
| 2 | Newborn, respiratory failure | Ta, Hy (1 month) | None | Nt289insA | Nt4648C>T (R1550W) | Transplanted (died) (3 months)* |
| 3 | 3 months, acute respiratory distress | Ta, FTT, Hy (3 months) | GGO, ST (3 months) | Nt2646insC | Nt3757C>T (P1253S) | Died (4 months)* |
| 4 | 2 years, acute respiratory distress | Ta, Cr, Cl, FTT, Hy (2 years) | GGO, ST, PE (2 years) | Nt4732G>A (E1578K) | Nt4772A>C (Q1591P) | Alive, ILD score 4 (15 years) |
| 5 | 1 year, recurrent hypoxaemia | Ta, Cl, FTT, Hy (3 years) | GGO, ST, PE, cysts (2 years) | Nt59G>T (R20L) | Nt2879T>C (L960S) | Alive, ILD score 4 (8 years) |
| 6 | Newborn, pneumonia | Ta, Cr, Cl, FTT, Hy (10 years) | GGO, ST, PE (4 years) | Nt875A>T (E292V) | Nt3341C>T (T1114M) | Transplanted (alive) (12 years)* |
| 7 | Newborn, respiratory failure | Ta, Cl, FTT (6 years) | GGO, ST, PE, cysts (6 years) | Nt875A>T (E292V) | Nt4706delTCA (deltaI1569) | Alive, ILD score 1 (18 years) |
| 8 | Newborn, pneumonia | Ta, Cr, Cl, Hy (6 years) | GGO, PE (6 years) | Nt629G>T (G210V) | Nt3609delCTT (deltaF1203) | Alive, ILD score 3 (11 years) |
| 9 | 4 years, recurrent hypoxaemia | Ta, Cr, Hy (exertional) (8 years) | GGO, ST (7 years) | Nt128G>A (R43H) | Nt1609 in/del (end exon 13) | Alive, ILD score 2 (13 years) |
Ta, tachypnoea; Cr, crackles; Wh, wheezing; Cl, clubbing; Hy, hypoxaemia; FTT, failure to thrive; GGO, ground-glass opacification; ST, septal thickening; PE, pectus excavatum.
*Age at transplantation or death.