|
1
|
(HPO:0000478)
|
Abnormality of the eye |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
2
|
(HPO:0000405)
|
Conductive hearing impairment |
Frequent [Orphanet]
|
|
|
|
164 / 7739
|
|
3
|
(HPO:0002023)
|
Anal atresia |
Occasional [Orphanet]
rare [HPO:skoehler]
|
|
|
|
135 / 7739
|
|
4
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
5
|
(HPO:0000202)
|
Oral cleft |
Very frequent [Orphanet]
|
|
|
|
120 / 7739
|
|
6
|
(HPO:0001006)
|
Hypotrichosis |
Occasional [Orphanet]
|
|
|
|
219 / 7739
|
|
7
|
(HPO:0006482)
|
Abnormality of dental morphology |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
8
|
(HPO:0000670)
|
Carious teeth |
Frequent [Orphanet]
|
|
|
|
145 / 7739
|
|
9
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
10
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
|
11
|
(HPO:0000698)
|
Conical tooth |
|
|
|
|
14 / 7739
|
|
12
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
|
13
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
14
|
(HPO:0007651)
|
Ectropion of lower eyelids |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0009743)
|
Distichiasis |
|
|
|
|
9 / 7739
|
|
16
|
(OMIM)
|
Lagophthalmia (incomplete closure of eyelids) |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Megaloblepharon (large eyelids) |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Cleft lip and/or palate |
|
|
|
|
4 / 7739
|
|
19
|
(OMIM)
|
Delayed dentition |
|
|
|
|
5 / 7739
|
|
20
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
21
|
(HPO:0001965)
|
Abnormality of the scalp |
Occasional [Orphanet]
|
|
|
|
10 / 7739
|
|
22
|
(HPO:0012905)
|
Euryblepharon |
Frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
23
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
24
|
(HPO:0000492)
|
Abnormality of the eyelid |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
25
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
26
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|