|
1
|
(HPO:0000835)
|
Adrenal hypoplasia |
|
|
|
|
23 / 7739
|
|
2
|
(HPO:0000846)
|
Adrenal insufficiency |
|
|
|
|
24 / 7739
|
|
3
|
(HPO:0000961)
|
Cyanosis |
|
|
|
|
60 / 7739
|
|
4
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
|
|
|
|
105 / 7739
|
|
5
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
6
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
|
|
|
|
73 / 7739
|
|
7
|
(HPO:0001943)
|
Hypoglycemia |
|
|
|
|
131 / 7739
|
|
8
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
9
|
(HPO:0002104)
|
Apnea |
|
|
|
|
106 / 7739
|
|
10
|
(HPO:0002153)
|
Hyperkalemia |
|
|
|
|
25 / 7739
|
|
11
|
(HPO:0002902)
|
Hyponatremia |
|
|
|
|
37 / 7739
|
|
12
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
13
|
(HPO:0001635)
|
Congestive heart failure |
|
|
|
|
232 / 7739
|
|
14
|
(OMIM)
|
Apnea, episodic, neonatal |
|
|
|
|
6 / 7739
|
|
15
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
16
|
(MedDRA:10011705)
|
Cyanosis neonatal |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Adrenal aplasia |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|