1
|
(HPO:0000506)
|
Telecanthus |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
2
|
(HPO:0000625)
|
Cleft eyelid |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
3
|
(HPO:0000337)
|
Broad forehead |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
4
|
(HPO:0000349)
|
Widow's peak |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
5
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
6
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
7
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
8
|
(HPO:0000632)
|
Lacrimation abnormality |
Very frequent [Orphanet]
|
|
|
|
42 / 7739
|
9
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
10
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
11
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
12
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
13
|
(HPO:0000636)
|
Upper eyelid coloboma |
|
|
|
|
7 / 7739
|
14
|
(HPO:0000652)
|
Lower eyelid coloboma |
|
|
|
|
9 / 7739
|
15
|
(HPO:0001012)
|
Multiple lipomas |
|
|
|
|
43 / 7739
|
16
|
(HPO:0001092)
|
Absent lacrimal punctum |
|
|
|
|
6 / 7739
|
17
|
(HPO:0010748)
|
Ectopic lacrimal punctum |
|
|
|
|
1 / 7739
|
18
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
19
|
(OMIM)
|
Coloboma of upper and lower eyelids |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Lipomas of upper lids |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Aplasia or malposition of lacrimal puncta |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Lipomas of nasal bridge and nasolabial areas |
|
|
|
|
1 / 7739
|
23
|
(HPO:0001031)
|
Subcutaneous lipoma |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
24
|
(HPO:0000481)
|
Abnormality of the cornea |
Occasional [Orphanet]
|
|
|
|
124 / 7739
|
25
|
(HPO:0030001)
|
Lagopthalmos |
Frequent [Orphanet]
|
|
|
|
2 / 7739
|
26
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
27
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
28
|
(HPO:0040164)
|
Lipomas of upper eyelids |
|
|
|
|
1 / 7739
|