1
|
(HPO:0000062)
|
Ambiguous genitalia |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
3
|
(HPO:0000501)
|
Glaucoma |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
4
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
5
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
6
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
7
|
(HPO:0001513)
|
Obesity |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
172 / 7739
|
8
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
9
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
10
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
11
|
(HPO:0008053)
|
Aplasia/Hypoplasia of the iris |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
12
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
13
|
(HPO:0000598)
|
Abnormality of the ear |
Frequent [Orphanet]
|
|
|
|
98 / 7739
|
14
|
(HPO:0000047)
|
Hypospadias |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
250 / 7739
|
15
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
16
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
17
|
(HPO:0000159)
|
Abnormality of the lip |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
18
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
19
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
20
|
(HPO:0000028)
|
Cryptorchidism |
typical [HPO]
|
|
|
|
347 / 7739
|
21
|
(HPO:0000083)
|
Renal insufficiency |
10/46 [HPO]
|
|
|
|
232 / 7739
|
22
|
(HPO:0000112)
|
Nephropathy |
40% [HPO]
|
|
|
|
92 / 7739
|
23
|
(HPO:0000130)
|
Abnormality of the uterus |
occasional [HPO]
|
|
|
|
86 / 7739
|
24
|
(HPO:0000142)
|
Abnormality of the vagina |
frequent [HPO]
|
|
|
|
24 / 7739
|
25
|
(HPO:0000150)
|
Gonadoblastoma |
occasional [HPO]
|
|
|
|
8 / 7739
|
26
|
(HPO:0000526)
|
Aniridia |
hallmark [HPO]
|
|
|
|
12 / 7739
|
27
|
(HPO:0001249)
|
Intellectual disability |
typical [HPO]
|
|
|
|
1089 / 7739
|
28
|
(HPO:0001428)
|
Somatic mutation |
|
|
|
|
100 / 7739
|
29
|
(HPO:0001466)
|
Contiguous gene syndrome |
|
|
|
|
8 / 7739
|
30
|
(HPO:0002667)
|
Nephroblastoma |
typical [HPO]
|
|
|
|
30 / 7739
|
31
|
(HPO:0010464)
|
Streak ovary |
frequent [HPO]
|
|
|
|
8 / 7739
|