|
1
|
(HPO:0002084)
|
Encephalocele |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
2
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
|
3
|
(HPO:0008207)
|
Primary adrenal insufficiency |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
|
4
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
|
5
|
(HPO:0000612)
|
Iris coloboma |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
|
6
|
(HPO:0004760)
|
Congenital septal defect |
Occasional [Orphanet]
|
|
|
|
69 / 7739
|
|
7
|
(HPO:0001155)
|
Abnormality of the hand |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
|
8
|
(HPO:0001276)
|
Hypertonia |
Occasional [Orphanet]
|
|
|
|
317 / 7739
|
|
9
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Occasional [Orphanet]
|
|
|
|
172 / 7739
|
|
10
|
(HPO:0002023)
|
Anal atresia |
Occasional [Orphanet]
|
|
|
|
135 / 7739
|
|
11
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
|
13
|
(HPO:0000062)
|
Ambiguous genitalia |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
|
14
|
(HPO:0002323)
|
Anencephaly |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
|
15
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Occasional [Orphanet]
|
|
|
|
80 / 7739
|
|
16
|
(HPO:0000069)
|
Abnormality of the ureter |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
|
17
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
|
18
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
|
19
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
|
20
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
21
|
(HPO:0012443)
|
Abnormality of brain morphology |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
|
22
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|