|
1
|
(HPO:0000021)
|
Megacystis |
|
|
|
|
7 / 7739
|
|
2
|
(HPO:0000103)
|
Polyuria |
|
|
|
|
60 / 7739
|
|
3
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
6
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
7
|
(HPO:0001955)
|
Unexplained fevers |
|
|
|
|
7 / 7739
|
|
8
|
(HPO:0001959)
|
Polydipsia |
|
|
|
|
43 / 7739
|
|
9
|
(HPO:0001986)
|
Hypertonic dehydration |
|
|
|
|
4 / 7739
|
|
10
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
11
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
12
|
(HPO:0003228)
|
Hypernatremia |
|
|
|
|
12 / 7739
|
|
13
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
14
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
15
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
16
|
(OMIM)
|
Lower urinary tract dilatation may occur over time |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Mental retardation can occur in patients with repeated episodes of dehydration |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Decreased urine osmolality |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Normal or increased levels of serum arginine vasopressin (antidiuretic hormone, 192340) |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Abnormal extrarenal response to dDAVP (no increase in von Willebrand factor or factor VIII) |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
No increase in urinary cyclic AMP (cAMP) in response to vasopressin or dDAVP |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000873)
|
Diabetes insipidus |
|
|
|
|
34 / 7739
|
|
23
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
24
|
(HPO:0003623)
|
Neonatal onset |
|
|
|
|
22 / 7739
|