1
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
2
|
(HPO:0000581)
|
Blepharophimosis |
Frequent [Orphanet]
|
|
|
|
197 / 7739
|
3
|
(HPO:0002435)
|
Meningocele |
Frequent [Orphanet]
|
|
|
|
23 / 7739
|
4
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
5
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
6
|
(HPO:0000411)
|
Protruding ear |
Frequent [Orphanet]
|
|
|
|
140 / 7739
|
7
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
8
|
(HPO:0000162)
|
Glossoptosis |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
9
|
(HPO:0002612)
|
Congenital hepatic fibrosis |
Very frequent [Orphanet]
|
|
|
|
16 / 7739
|
10
|
(HPO:0000478)
|
Abnormality of the eye |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
11
|
(HPO:0000430)
|
Underdeveloped nasal alae |
Frequent [Orphanet]
|
|
|
|
90 / 7739
|
12
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
13
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
14
|
(HPO:0000463)
|
Anteverted nares |
Frequent [Orphanet]
|
|
|
|
305 / 7739
|
15
|
(HPO:0000107)
|
Renal cyst |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
16
|
(HPO:0003196)
|
Short nose |
Frequent [Orphanet]
|
|
|
|
264 / 7739
|
17
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
18
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
19
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
20
|
(HPO:0100022)
|
Abnormality of movement |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
21
|
(HPO:0000598)
|
Abnormality of the ear |
Frequent [Orphanet]
|
|
|
|
98 / 7739
|
22
|
(HPO:0007477)
|
Abnormal dermatoglyphics |
Frequent [Orphanet]
|
|
|
|
72 / 7739
|
23
|
(HPO:0002119)
|
Ventriculomegaly |
Frequent [Orphanet]
|
|
|
|
253 / 7739
|
24
|
(HPO:0000341)
|
Narrow forehead |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
25
|
(HPO:0000479)
|
Abnormality of the retina |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
26
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
27
|
(HPO:0012581)
|
Solitary renal cyst |
Frequent [Orphanet]
|
|
|
|
7 / 7739
|
28
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|