|
1
|
(HPO:0000457)
|
Depressed nasal ridge |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
2
|
(HPO:0000545)
|
Myopia |
Occasional [Orphanet]
|
|
|
|
286 / 7739
|
|
3
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
4
|
(HPO:0001829)
|
Foot polydactyly |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
|
5
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
6
|
(HPO:0001161)
|
Hand polydactyly |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
|
7
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
8
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
|
9
|
(HPO:0009700)
|
Finger symphalangism |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
|
10
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
|
11
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
12
|
(HPO:0001770)
|
Toe syndactyly |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
|
13
|
(HPO:0000232)
|
Everted lower lip vermilion |
Very frequent [Orphanet]
|
|
|
|
90 / 7739
|
|
14
|
(HPO:0002558)
|
Supernumerary nipple |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
|
15
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
|
16
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
17
|
(HPO:0000269)
|
Prominent occiput |
Occasional [Orphanet]
|
|
|
|
43 / 7739
|
|
18
|
(HPO:0000322)
|
Short philtrum |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
19
|
(HPO:0001643)
|
Patent ductus arteriosus |
Very frequent [Orphanet]
|
|
|
|
228 / 7739
|
|
20
|
(HPO:0010650)
|
Hypoplasia of the premaxilla |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
21
|
(HPO:0000207)
|
Triangular mouth |
|
|
|
|
8 / 7739
|
|
22
|
(HPO:0000337)
|
Broad forehead |
|
|
|
|
116 / 7739
|
|
23
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
24
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
|
25
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
|
26
|
(HPO:0000574)
|
Thick eyebrow |
|
|
|
|
96 / 7739
|
|
27
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
28
|
(HPO:0002553)
|
Highly arched eyebrow |
|
|
|
|
92 / 7739
|
|
29
|
(HPO:0009244)
|
Distal/middle symphalangism of 5th finger |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0009804)
|
Reduced number of teeth |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
|
31
|
(OMIM)
|
Prominent 'duckbill' lips |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Developmental delay, mild |
|
|
|
|
8 / 7739
|
|
33
|
(HPO:0002360)
|
Sleep disturbance |
Occasional [Orphanet]
|
|
|
|
113 / 7739
|
|
34
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
35
|
(HPO:0012471)
|
Thick vermilion border |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
36
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|