Table 1 Details of the demographic features for the cohort (n = 69)

General features

Sex ratio (n = 61)

M/F = 0.97 (NR: 8)

Reported consanguinity (n = 62)

40/62 (65%) (NR: 7)

Affected relatives (n = 69)

38/69 (55%)

Median age at report (25th–75th percentile)

32 months (11.5–72 months)

Geographic origin (n = 69)

Europe 35/69 (51%)

Middle East 22/69 (32%)

Africa 8/69 (12%)

South or central America 4/69 (6%)

Outcome

Mortality rate (n = 69)

Total cohort: 32/69 (46%)

 < 2 years: 29/69 (42%)

 ≥ 2 years: 3/31 (10%)

Age at death (n = 32)

Median (25th–75th percentile): 7.5 months (3–18 months)

Repartition of death by age category:

Neonatal period (< 1 month): 14/32 (44%)

Infancy (1 month–2 years):15/32 (47%)

Childhood (> 2 years): 3/32 (9%)

Cause of death (n = 32)

Respiratory failure 14/32 (44%)

Hyperthermic episode 9/32 (28%)

Sudden death 2/32 (6%)

Necrotizing enterocolitis 2/32 (6%)

Post-operative 2/32 (6%)

Not reported 3/32 (9%)

Cause of death by age category:

Neonatal period:

Respiratory failure or PAH: 10/14

Hyperthermic episode or sudden death: 1/14

Other cause: 3/14

Infancy:

Respiratory failure or PAH: 2/15

Hyperthermic episode or sudden death: 10/15

Other cause: 3/15

Childhood:

Respiratory failure or PAH: 2/3

Hyperthermic episode or sudden death: 0/15

Other cause: 1/3