1
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
|
|
278 / 7739
|
2
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
3
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
4
|
(HPO:0000453)
|
Choanal atresia |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
5
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
6
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
7
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
8
|
(HPO:0000520)
|
Proptosis |
Occasional [Orphanet]
|
|
|
|
192 / 7739
|
9
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
10
|
(HPO:0001252)
|
Muscular hypotonia |
Occasional [Orphanet]
|
|
|
|
990 / 7739
|
11
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
|
|
358 / 7739
|
12
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
13
|
(HPO:0002475)
|
Myelomeningocele |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
14
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
15
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
16
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
17
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
18
|
(HPO:0009882)
|
Short distal phalanx of finger |
Frequent [Orphanet]
|
|
|
|
125 / 7739
|
19
|
(HPO:0010655)
|
Epiphyseal stippling |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
20
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
21
|
(HPO:0000158)
|
Macroglossia |
Occasional [Orphanet]
|
|
|
|
119 / 7739
|
22
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
23
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Very frequent [Orphanet]
|
|
|
|
77 / 7739
|
24
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
25
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
26
|
(HPO:0008772)
|
Aplasia/Hypoplasia of the external ear |
Occasional [Orphanet]
|
|
|
|
67 / 7739
|
27
|
(HPO:0001804)
|
Hypoplastic fingernail |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|