|
1
|
(HPO:0000232)
|
Everted lower lip vermilion |
Frequent [Orphanet]
|
|
|
|
90 / 7739
|
|
2
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
|
3
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
4
|
(HPO:0000501)
|
Glaucoma |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
5
|
(HPO:0000506)
|
Telecanthus |
Occasional [Orphanet]
|
|
|
|
156 / 7739
|
|
6
|
(HPO:0000593)
|
Abnormality of the anterior chamber |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
7
|
(HPO:0000627)
|
Posterior embryotoxon |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
8
|
(HPO:0000691)
|
Microdontia |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
|
9
|
(HPO:0000864)
|
Abnormality of the hypothalamus-pituitary axis |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
|
10
|
(HPO:0001582)
|
Redundant skin |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
|
11
|
(HPO:0002007)
|
Frontal bossing |
Occasional [Orphanet]
|
|
|
|
366 / 7739
|
|
12
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
|
13
|
(HPO:0005280)
|
Depressed nasal bridge |
Occasional [Orphanet]
|
|
|
|
381 / 7739
|
|
14
|
(HPO:0007676)
|
Hypoplasia of the iris |
|
|
|
|
22 / 7739
|
|
15
|
(HPO:0008053)
|
Aplasia/Hypoplasia of the iris |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
16
|
(HPO:0009804)
|
Reduced number of teeth |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
|
17
|
(HPO:0011800)
|
Midface retrusion |
Frequent [Orphanet]
|
|
|
|
221 / 7739
|
|
18
|
(HPO:0002023)
|
Anal atresia |
Occasional [Orphanet]
|
|
|
|
135 / 7739
|
|
19
|
(HPO:0000445)
|
Wide nose |
Occasional [Orphanet]
|
|
|
|
190 / 7739
|
|
20
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
Occasional [Orphanet]
|
|
|
|
129 / 7739
|
|
21
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
|
22
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
|
23
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
24
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
25
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
|
26
|
(HPO:0000336)
|
Prominent supraorbital ridges |
|
|
|
|
45 / 7739
|
|
27
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
28
|
(HPO:0000482)
|
Microcornea |
|
|
|
|
102 / 7739
|
|
29
|
(HPO:0000485)
|
Megalocornea |
|
|
|
|
26 / 7739
|
|
30
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
31
|
(HPO:0000526)
|
Aniridia |
|
|
|
|
12 / 7739
|
|
32
|
(HPO:0000558)
|
Rieger anomaly |
|
|
|
|
5 / 7739
|
|
33
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
|
34
|
(HPO:0000824)
|
Growth hormone deficiency |
|
|
|
|
56 / 7739
|
|
35
|
(HPO:0002025)
|
Anal stenosis |
|
|
|
|
23 / 7739
|
|
36
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
|
37
|
(HPO:0004298)
|
Abnormality of the abdominal wall |
|
|
|
|
20 / 7739
|
|
38
|
(HPO:0007873)
|
Abnormally prominent line of Schwalbe |
|
|
|
|
4 / 7739
|
|
39
|
(HPO:0011500)
|
Polycoria |
|
|
|
|
3 / 7739
|