|
1
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
|
3
|
(HPO:0000431)
|
Wide nasal bridge |
Occasional [Orphanet]
|
|
|
|
290 / 7739
|
|
4
|
(HPO:0000463)
|
Anteverted nares |
Frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
5
|
(HPO:0000470)
|
Short neck |
Occasional [Orphanet]
|
|
|
|
345 / 7739
|
|
6
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
7
|
(HPO:0000490)
|
Deeply set eye |
Frequent [Orphanet]
|
|
|
|
131 / 7739
|
|
8
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
|
9
|
(HPO:0000581)
|
Blepharophimosis |
Frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
10
|
(HPO:0000597)
|
Ophthalmoparesis |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
11
|
(HPO:0000615)
|
Abnormality of the pupil |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
|
12
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
|
13
|
(HPO:0001100)
|
Heterochromia iridis |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
|
14
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
15
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
|
16
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Occasional [Orphanet]
|
|
|
|
172 / 7739
|
|
17
|
(HPO:0008053)
|
Aplasia/Hypoplasia of the iris |
Occasional [Orphanet]
|
|
|
|
38 / 7739
|
|
18
|
(HPO:0000356)
|
Abnormality of the outer ear |
Occasional [Orphanet]
|
|
|
|
85 / 7739
|
|
19
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Occasional [Orphanet]
|
|
|
|
80 / 7739
|
|
20
|
(HPO:0100542)
|
Abnormal localization of kidney |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
|
21
|
(HPO:0001332)
|
Dystonia |
Occasional [Orphanet]
|
|
|
|
197 / 7739
|
|
22
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
|
23
|
(HPO:0001762)
|
Talipes equinovarus |
Occasional [Orphanet]
|
|
|
|
309 / 7739
|
|
24
|
(HPO:0000496)
|
Abnormality of eye movement |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
25
|
(HPO:0002818)
|
Abnormality of the radius |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
|
26
|
(HPO:0004279)
|
Short palm |
Occasional [Orphanet]
|
|
|
|
323 / 7739
|
|
27
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
28
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
29
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
30
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
|
31
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
|
32
|
(HPO:0000479)
|
Abnormality of the retina |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
|
33
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
34
|
(HPO:0000487)
|
Congenital strabismus |
|
|
|
|
4 / 7739
|
|
35
|
(HPO:0000542)
|
Impaired ocular adduction |
|
|
|
|
4 / 7739
|
|
36
|
(HPO:0000619)
|
Impaired convergence |
|
|
|
|
4 / 7739
|
|
37
|
(HPO:0000634)
|
Impaired ocular abduction |
|
|
|
|
4 / 7739
|
|
38
|
(HPO:0000661)
|
Palpebral fissure narrowing on adduction |
|
|
|
|
4 / 7739
|
|
39
|
(HPO:0009921)
|
Duane anomaly |
|
|
|
|
9 / 7739
|