|
1
|
(HPO:0002901)
|
Hypocalcemia |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
2
|
(HPO:0000790)
|
Hematuria |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
|
3
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
|
4
|
(HPO:0000076)
|
Vesicoureteral reflux |
Occasional [Orphanet]
|
|
|
|
94 / 7739
|
|
5
|
(HPO:0003765)
|
Psoriasis |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
|
6
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
|
7
|
(HPO:0000104)
|
Renal agenesis |
|
|
|
|
68 / 7739
|
|
8
|
(HPO:0010958)
|
Bilateral renal agenesis |
|
|
|
|
16 / 7739
|
|
9
|
(HPO:0000110)
|
Renal dysplasia |
|
|
|
|
44 / 7739
|
|
10
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
11
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
|
12
|
(HPO:0000083)
|
Renal insufficiency |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
|
13
|
(HPO:0000093)
|
Proteinuria |
Occasional [Orphanet]
|
|
|
|
169 / 7739
|
|
14
|
(HPO:0000829)
|
Hypoparathyroidism |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
15
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
16
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
17
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
18
|
(HPO:0002021)
|
Pyloric stenosis |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
|
19
|
(HPO:0003394)
|
Muscle cramps |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
20
|
(HPO:0000510)
|
Rod-cone dystrophy |
Occasional [Orphanet]
|
|
|
|
266 / 7739
|
|
21
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
|
22
|
(HPO:0000100)
|
Nephrotic syndrome |
|
|
|
|
83 / 7739
|
|
23
|
(HPO:0001153)
|
Septate vagina |
rare [HPO:skoehler]
|
|
|
|
6 / 7739
|
|
24
|
(HPO:0003762)
|
Uterus didelphys |
rare [HPO:skoehler]
|
|
|
|
8 / 7739
|
|
25
|
(HPO:0004722)
|
Thickening of the glomerular basement membrane |
|
|
|
|
12 / 7739
|
|
26
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Frequent [Orphanet]
|
|
|
|
127 / 7739
|
|
27
|
(HPO:0012622)
|
Chronic kidney disease |
|
|
|
|
32 / 7739
|
|
28
|
(HPO:0100542)
|
Abnormal localization of kidney |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
|
29
|
(HPO:0000130)
|
Abnormality of the uterus |
|
|
|
|
86 / 7739
|
|
30
|
(OMIM)
|
Uterine agenesis (1 patient) |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
Vaginal agenesis (rare) |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0000122)
|
Unilateral renal agenesis |
|
|
|
|
24 / 7739
|
|
33
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
34
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
|
35
|
(HPO:0000107)
|
Renal cyst |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
|
36
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|