|
1
|
(HPO:0000572)
|
Visual loss |
Very frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
2
|
(HPO:0000482)
|
Microcornea |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
3
|
(HPO:0000426)
|
Prominent nasal bridge |
Very frequent [Orphanet]
|
|
|
|
121 / 7739
|
|
4
|
(HPO:0000501)
|
Glaucoma |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
|
5
|
(HPO:0007906)
|
Increased intraocular pressure |
|
|
|
|
30 / 7739
|
|
6
|
(HPO:0000275)
|
Narrow face |
|
|
|
|
76 / 7739
|
|
7
|
(HPO:0000276)
|
Long face |
Very frequent [Orphanet]
|
|
|
|
109 / 7739
|
|
8
|
(HPO:0011069)
|
Increased number of teeth |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
9
|
(HPO:0000541)
|
Retinal detachment |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
|
10
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
11
|
(HPO:0000303)
|
Mandibular prognathia |
Very frequent [Orphanet]
|
|
|
|
179 / 7739
|
|
12
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
13
|
(HPO:0000411)
|
Protruding ear |
Frequent [Orphanet]
|
|
|
|
140 / 7739
|
|
14
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
15
|
(HPO:0000708)
|
Behavioral abnormality |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
|
16
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
|
17
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
18
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
19
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
20
|
(HPO:0000519)
|
Congenital cataract |
|
|
|
|
73 / 7739
|
|
21
|
(HPO:0000699)
|
Diastema |
|
|
|
|
10 / 7739
|
|
22
|
(HPO:0000717)
|
Autism |
|
|
|
|
108 / 7739
|
|
23
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
24
|
(HPO:0001500)
|
Broad finger |
|
|
|
|
9 / 7739
|
|
25
|
(HPO:0002342)
|
Intellectual disability, moderate |
80% [HPO:skoehler]
|
|
|
|
37 / 7739
|
|
26
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
27
|
(HPO:0006332)
|
Supernumerary maxillary incisor |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0006346)
|
Screwdriver-shaped incisors |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0008031)
|
Posterior Y-sutural cataract |
|
|
|
|
2 / 7739
|
|
30
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
|
31
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
32
|
(OMIM)
|
Long narrow face |
|
|
|
|
11 / 7739
|
|
33
|
(OMIM)
|
Large anteverted pinnae (90% males, 40% females) |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Vision loss, profound |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
Normal vision |
|
|
|
|
3 / 7739
|
|
36
|
(OMIM)
|
Screwdriver blade-shaped incisors (males and females) |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Tapered premolar and molar cusps |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Mental retardation, mild-moderate |
|
|
|
|
6 / 7739
|
|
39
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
40
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|