1
|
(HPO:0001182)
|
Tapered finger |
Very frequent [Orphanet]
|
|
|
|
93 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
3
|
(HPO:0000581)
|
Blepharophimosis |
Very frequent [Orphanet]
|
|
|
|
197 / 7739
|
4
|
(HPO:0000431)
|
Wide nasal bridge |
Very frequent [Orphanet]
|
|
|
|
290 / 7739
|
5
|
(HPO:0100267)
|
Lip pit |
Very frequent [Orphanet]
|
|
|
|
9 / 7739
|
6
|
(HPO:0002353)
|
EEG abnormality |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
7
|
(HPO:0001608)
|
Abnormality of the voice |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
8
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
9
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Very frequent [Orphanet]
|
|
|
|
185 / 7739
|
10
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
11
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
12
|
(HPO:0001561)
|
Polyhydramnios |
Very frequent [Orphanet]
|
|
|
|
191 / 7739
|
13
|
(HPO:0000426)
|
Prominent nasal bridge |
Very frequent [Orphanet]
|
|
|
|
121 / 7739
|
14
|
(HPO:0000664)
|
Synophrys |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
15
|
(HPO:0000506)
|
Telecanthus |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
16
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
17
|
(HPO:0011069)
|
Increased number of teeth |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
18
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
19
|
(HPO:0010285)
|
Oral synechia |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
20
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
21
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
22
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
23
|
(HPO:0010297)
|
Bifid tongue |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
24
|
(HPO:0000322)
|
Short philtrum |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
25
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
26
|
(HPO:0000598)
|
Abnormality of the ear |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
27
|
(HPO:0002119)
|
Ventriculomegaly |
Very frequent [Orphanet]
|
|
|
|
253 / 7739
|
28
|
(HPO:0000499)
|
Abnormality of the eyelashes |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
29
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
30
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
31
|
(HPO:0000479)
|
Abnormality of the retina |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
32
|
(HPO:0000204)
|
Cleft upper lip |
Very frequent [Orphanet]
|
|
|
|
193 / 7739
|
33
|
(HPO:0100649)
|
Neoplasm of the oral cavity |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
34
|
(HPO:0000163)
|
Abnormality of the oral cavity |
Very frequent [Orphanet]
|
|
|
|
37 / 7739
|
35
|
(HPO:0000161)
|
Median cleft lip |
|
|
|
|
27 / 7739
|
36
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
37
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
38
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
39
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
40
|
(HPO:0000456)
|
Bifid nasal tip |
|
|
|
|
11 / 7739
|
41
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
42
|
(HPO:0001056)
|
Milia |
|
|
|
|
24 / 7739
|
43
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
44
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
45
|
(HPO:0002100)
|
Recurrent aspiration pneumonia |
|
|
|
|
6 / 7739
|
46
|
(HPO:0005349)
|
Hypoplasia of the epiglottis |
|
|
|
|
7 / 7739
|
47
|
(HPO:0005736)
|
Short tibia |
|
|
|
|
19 / 7739
|
48
|
(HPO:0010442)
|
Polydactyly |
|
|
|
|
69 / 7739
|