1
|
(HPO:0000154)
|
Wide mouth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
2
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
3
|
(HPO:0000233)
|
Thin vermilion border |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
4
|
(HPO:0000243)
|
Trigonocephaly |
Frequent [Orphanet]
|
|
|
|
40 / 7739
|
5
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
6
|
(HPO:0000280)
|
Coarse facial features |
Very frequent [Orphanet]
|
|
|
|
189 / 7739
|
7
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
8
|
(HPO:0000293)
|
Full cheeks |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
9
|
(HPO:0000307)
|
Pointed chin |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
10
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
11
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
12
|
(HPO:0000465)
|
Webbed neck |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
13
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
14
|
(HPO:0000482)
|
Microcornea |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
15
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
16
|
(HPO:0000506)
|
Telecanthus |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
17
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
18
|
(HPO:0000588)
|
Optic nerve coloboma |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
19
|
(HPO:0000612)
|
Iris coloboma |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
20
|
(HPO:0001100)
|
Heterochromia iridis |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
21
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
22
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
23
|
(HPO:0002162)
|
Low posterior hairline |
Frequent [Orphanet]
|
|
|
|
88 / 7739
|
24
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
25
|
(HPO:0002553)
|
Highly arched eyebrow |
Very frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
92 / 7739
|
26
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
27
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
28
|
(HPO:0005105)
|
Abnormal nasal morphology |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
29
|
(HPO:0005487)
|
Prominent metopic ridge |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
30
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Frequent [Orphanet]
|
|
|
|
142 / 7739
|
31
|
(HPO:0100540)
|
Palpebral edema |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
32
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
33
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
34
|
(HPO:0002140)
|
Ischemic stroke |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
35
|
(HPO:0000239)
|
Large fontanelles |
Frequent [Orphanet]
|
|
|
|
135 / 7739
|
36
|
(HPO:0000072)
|
Hydroureter |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
37
|
(HPO:0002536)
|
Abnormal cortical gyration |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
38
|
(HPO:0009611)
|
Bifid distal phalanx of the thumb |
Occasional [Orphanet]
|
|
|
|
15 / 7739
|
39
|
(HPO:0000479)
|
Abnormality of the retina |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
40
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
41
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
42
|
(HPO:0012905)
|
Euryblepharon |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
43
|
(HPO:0000436)
|
Abnormality of the nasal tip |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
44
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
45
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
46
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
47
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
48
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
49
|
(HPO:0000202)
|
Oral cleft |
rare [HPO:skoehler]
|
|
|
|
120 / 7739
|
50
|
(HPO:0000278)
|
Retrognathia |
rare [HPO:skoehler]
|
|
|
|
100 / 7739
|
51
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
52
|
(HPO:0000396)
|
Overfolded helix |
|
|
|
|
21 / 7739
|
53
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
54
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
55
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
56
|
(HPO:0000567)
|
Chorioretinal coloboma |
|
|
|
|
26 / 7739
|
57
|
(HPO:0000568)
|
Microphthalmia |
rare [HPO:skoehler]
|
|
|
|
183 / 7739
|
58
|
(HPO:0000637)
|
Long palpebral fissure |
|
|
|
|
21 / 7739
|
59
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
60
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
61
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
62
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
63
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
64
|
(HPO:0001339)
|
Lissencephaly |
|
|
|
|
30 / 7739
|
65
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
66
|
(HPO:0001647)
|
Bicuspid aortic valve |
|
|
|
|
34 / 7739
|
67
|
(HPO:0001650)
|
Aortic valve stenosis |
|
|
|
|
49 / 7739
|
68
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
69
|
(HPO:0002119)
|
Ventriculomegaly |
rare [HPO:skoehler]
|
|
|
|
253 / 7739
|
70
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
71
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
72
|
(HPO:0007930)
|
Prominent epicanthal folds |
|
|
|
|
4 / 7739
|
73
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
74
|
(HPO:0010066)
|
Duplication of phalanx of hallux |
rare [HPO:skoehler]
|
|
|
|
9 / 7739
|