|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0000098)
|
Tall stature |
|
|
|
|
74 / 7739
|
|
3
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
|
|
|
|
75 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001259)
|
Coma |
|
|
|
|
65 / 7739
|
|
6
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
7
|
(HPO:0001988)
|
Recurrent hypoglycemia |
|
|
|
|
6 / 7739
|
|
8
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
9
|
(HPO:0003154)
|
Increased circulating ACTH level |
|
|
|
|
8 / 7739
|
|
10
|
(HPO:0005616)
|
Accelerated skeletal maturation |
|
|
|
|
46 / 7739
|
|
11
|
(HPO:0008163)
|
Decreased circulating cortisol level |
|
|
|
|
5 / 7739
|