1
|
(HPO:0000272)
|
Malar flattening |
Very frequent [Orphanet]
|
|
|
|
277 / 7739
|
2
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
3
|
(HPO:0000311)
|
Round face |
Frequent [Orphanet]
|
|
|
|
104 / 7739
|
4
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
5
|
(HPO:0000343)
|
Long philtrum |
Frequent [Orphanet]
|
|
|
|
262 / 7739
|
6
|
(HPO:0000308)
|
Microretrognathia |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
7
|
(HPO:0000405)
|
Conductive hearing impairment |
Very frequent [Orphanet]
|
|
|
|
164 / 7739
|
8
|
(HPO:0000457)
|
Depressed nasal ridge |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
9
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
10
|
(HPO:0000470)
|
Short neck |
Occasional [Orphanet]
|
|
|
|
345 / 7739
|
11
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
12
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
13
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Occasional [Orphanet]
|
|
|
|
185 / 7739
|
14
|
(HPO:0000612)
|
Iris coloboma |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
15
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
16
|
(HPO:0000664)
|
Synophrys |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
17
|
(HPO:0000767)
|
Pectus excavatum |
Occasional [Orphanet]
|
|
|
|
244 / 7739
|
18
|
(HPO:0000965)
|
Cutis marmorata |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
19
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Occasional [Orphanet]
|
|
|
|
119 / 7739
|
20
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
21
|
(HPO:0001231)
|
Abnormality of the fingernails |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
22
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
23
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
|
|
358 / 7739
|
24
|
(HPO:0001561)
|
Polyhydramnios |
Frequent [Orphanet]
|
|
|
|
191 / 7739
|
25
|
(HPO:0001601)
|
Laryngomalacia |
Very frequent [Orphanet]
|
|
|
|
61 / 7739
|
26
|
(HPO:0001622)
|
Premature birth |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
27
|
(HPO:0001744)
|
Splenomegaly |
Occasional [Orphanet]
|
|
|
|
337 / 7739
|
28
|
(HPO:0001800)
|
Hypoplastic toenails |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
29
|
(HPO:0002002)
|
Deep philtrum |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
30
|
(HPO:0002007)
|
Frontal bossing |
Occasional [Orphanet]
|
|
|
|
366 / 7739
|
31
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
32
|
(HPO:0002240)
|
Hepatomegaly |
Occasional [Orphanet]
|
|
|
|
467 / 7739
|
33
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
34
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
35
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
36
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
37
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
38
|
(HPO:0003298)
|
Spina bifida occulta |
Frequent [Orphanet]
|
|
|
|
67 / 7739
|
39
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
40
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
41
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
42
|
(HPO:0005280)
|
Depressed nasal bridge |
Occasional [Orphanet]
|
|
|
|
381 / 7739
|
43
|
(HPO:0006487)
|
Bowing of the long bones |
Frequent [Orphanet]
|
|
|
|
95 / 7739
|
44
|
(HPO:0008064)
|
Ichthyosis |
Frequent [Orphanet]
|
|
|
|
108 / 7739
|
45
|
(HPO:0009882)
|
Short distal phalanx of finger |
Frequent [Orphanet]
|
|
|
|
125 / 7739
|
46
|
(HPO:0010655)
|
Epiphyseal stippling |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
47
|
(HPO:0010804)
|
Tented upper lip vermilion |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
48
|
(HPO:0100555)
|
Asymmetric growth |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
49
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
50
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
51
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
52
|
(HPO:0000054)
|
Micropenis |
Occasional [Orphanet]
|
|
|
|
257 / 7739
|
53
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
54
|
(HPO:0010650)
|
Hypoplasia of the premaxilla |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
55
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
56
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
57
|
(HPO:0001006)
|
Hypotrichosis |
Occasional [Orphanet]
|
|
|
|
219 / 7739
|
58
|
(HPO:0012368)
|
Flat face |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
59
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
60
|
(HPO:0000436)
|
Abnormality of the nasal tip |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
61
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Very frequent [Orphanet]
|
|
|
|
77 / 7739
|
62
|
(HPO:0001167)
|
Abnormality of finger |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
63
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
64
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
65
|
(HPO:0000479)
|
Abnormality of the retina |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
66
|
(HPO:0000107)
|
Renal cyst |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
67
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
68
|
(HPO:0011420)
|
Death |
Occasional [Orphanet]
|
|
|
|
184 / 7739
|
69
|
(HPO:0000078)
|
Abnormality of the genital system |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
70
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
71
|
(HPO:0011849)
|
Abnormal bone ossification |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
72
|
(HPO:0001172)
|
Abnormality of the thumb |
Occasional [Orphanet]
|
|
|
|
103 / 7739
|