1
|
(HPO:0000873)
|
Diabetes insipidus |
Very frequent [Orphanet]
|
|
|
|
34 / 7739
|
2
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
3
|
(HPO:0001944)
|
Dehydration |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
4
|
(HPO:0002014)
|
Diarrhea |
Occasional [Orphanet]
|
|
|
|
225 / 7739
|
5
|
(HPO:0002017)
|
Nausea and vomiting |
Occasional [Orphanet]
|
|
|
|
134 / 7739
|
6
|
(HPO:0002902)
|
Hyponatremia |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
7
|
(HPO:0003228)
|
Hypernatremia |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
8
|
(HPO:0004372)
|
Reduced consciousness/confusion |
Frequent [Orphanet]
|
|
|
|
73 / 7739
|
9
|
(HPO:0002315)
|
Headache |
Frequent [Orphanet]
|
|
|
|
175 / 7739
|
10
|
(HPO:0001945)
|
Fever |
Frequent [Orphanet]
|
|
|
|
218 / 7739
|
11
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
12
|
(HPO:0011037)
|
Decreased urine output |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
13
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
14
|
(HPO:0002360)
|
Sleep disturbance |
Frequent [Orphanet]
|
|
|
|
113 / 7739
|
15
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
16
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
17
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
18
|
(HPO:0000445)
|
Wide nose |
|
|
|
|
190 / 7739
|
19
|
(HPO:0000863)
|
Central diabetes insipidus |
|
|
|
|
7 / 7739
|
20
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
21
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
22
|
(HPO:0002171)
|
Gliosis |
|
|
|
|
48 / 7739
|
23
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|