|
1
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
2
|
(HPO:0000572)
|
Visual loss |
Very frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
3
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
|
4
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
5
|
(HPO:0011800)
|
Midface retrusion |
Very frequent [Orphanet]
|
|
|
|
221 / 7739
|
|
6
|
(HPO:0000491)
|
Keratitis |
|
|
|
|
21 / 7739
|
|
7
|
(HPO:0001131)
|
Corneal dystrophy |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
8
|
(HPO:0002104)
|
Apnea |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
|
9
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
|
10
|
(HPO:0002251)
|
Aganglionic megacolon |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
11
|
(HPO:0100729)
|
Large face |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
12
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
13
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
14
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
15
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
16
|
(HPO:0001643)
|
Patent ductus arteriosus |
Frequent [Orphanet]
|
|
|
|
228 / 7739
|
|
17
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Very frequent [Orphanet]
|
|
|
|
185 / 7739
|
|
18
|
(HPO:0000510)
|
Rod-cone dystrophy |
Very frequent [Orphanet]
|
|
|
|
266 / 7739
|
|
19
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
20
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
21
|
(HPO:0000632)
|
Lacrimation abnormality |
Very frequent [Orphanet]
|
|
|
|
42 / 7739
|
|
22
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
23
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
24
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
25
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
26
|
(HPO:0007980)
|
Absent retinal pigment epithelium |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0011229)
|
Broad eyebrow |
|
|
|
|
9 / 7739
|
|
28
|
(HPO:0100533)
|
Inflammatory abnormality of the eye |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
29
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
30
|
(OMIM)
|
Broad, flat facies |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Hypesthetic cornea |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Absent peripapillary choriocapillaris |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Corneal keratitis |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0002577)
|
Abnormality of the stomach |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
|
35
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
36
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
37
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
38
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
|
|
100 / 7739
|
|
39
|
(HPO:0012155)
|
Decreased corneal sensation |
|
|
|
|
5 / 7739
|