|
1
|
(HPO:0000233)
|
Thin vermilion border |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
2
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
3
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
4
|
(HPO:0002216)
|
Premature graying of hair |
Occasional [Orphanet]
|
|
|
|
43 / 7739
|
|
5
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
|
6
|
(HPO:0001131)
|
Corneal dystrophy |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
|
7
|
(HPO:0000765)
|
Abnormality of the thorax |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
|
8
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
9
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
10
|
(HPO:0002353)
|
EEG abnormality |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
11
|
(HPO:0000239)
|
Large fontanelles |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
12
|
(HPO:0000924)
|
Abnormality of the skeletal system |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
13
|
(HPO:0000072)
|
Hydroureter |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
14
|
(HPO:0000348)
|
High forehead |
Very frequent [Orphanet]
|
|
|
|
157 / 7739
|
|
15
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
|
16
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
17
|
(HPO:0002101)
|
Abnormal lung lobation |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
|
18
|
(HPO:0000337)
|
Broad forehead |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
19
|
(HPO:0000954)
|
Single transverse palmar crease |
Very frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
20
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
21
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
22
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
23
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
24
|
(HPO:0002566)
|
Intestinal malrotation |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
|
25
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
26
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
|
27
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
|
28
|
(HPO:0000069)
|
Abnormality of the ureter |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
29
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
30
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
|
31
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
|
32
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Occasional [Orphanet]
|
|
|
|
117 / 7739
|
|
33
|
(HPO:0001999)
|
Abnormal facial shape |
Very frequent [Orphanet]
|
|
|
|
169 / 7739
|
|
34
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
35
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
36
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
37
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
38
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
39
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|