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Table 1 Clinical characteristics of patients reported to have SAMD9 mutation and adrenal insufficiency

From: A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing

 

Narumi et al. (2016) [10]

Buonocore et al. (2017) [11]

Present study

Number of patients

11

8

1

Male:Female

7:4

8:0

Male

IUGR

11

8

+

Preterm delivery

NA

8 (32 weeks)

+ (31 weeks)

Adrenal insufficiency

11

7

+

Ambiguous genitalia

7

8

+

Monosomy 7 or 7q

2

5

Recurrent infection

10

7

+

Age at death (years)

1.5 ± 1.6 (range, 0.3–5)

0.6 ± 0.6 (range, 0–1.8)

0.3

Survival

3

2

  1. IUGR intrauterine growth restriction, NA not assessed