1
|
(HPO:0000053)
|
Macroorchidism |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
2
|
(HPO:0000069)
|
Abnormality of the ureter |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
3
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
4
|
(HPO:0000232)
|
Everted lower lip vermilion |
Occasional [Orphanet]
|
|
|
|
90 / 7739
|
5
|
(HPO:0000233)
|
Thin vermilion border |
Occasional [Orphanet]
|
|
|
|
124 / 7739
|
6
|
(HPO:0000268)
|
Dolichocephaly |
Occasional [Orphanet]
|
|
|
|
144 / 7739
|
7
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
8
|
(HPO:0000293)
|
Full cheeks |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
9
|
(HPO:0000294)
|
Low anterior hairline |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
10
|
(HPO:0000311)
|
Round face |
Very frequent [Orphanet]
|
|
|
|
104 / 7739
|
11
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
12
|
(HPO:0000322)
|
Short philtrum |
Occasional [Orphanet]
|
|
|
|
130 / 7739
|
13
|
(HPO:0000463)
|
Anteverted nares |
Frequent [Orphanet]
|
|
|
|
305 / 7739
|
14
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
15
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
16
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
17
|
(HPO:0000574)
|
Thick eyebrow |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
18
|
(HPO:0000581)
|
Blepharophimosis |
Occasional [Orphanet]
|
|
|
|
197 / 7739
|
19
|
(HPO:0000691)
|
Microdontia |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
20
|
(HPO:0000926)
|
Platyspondyly |
Occasional [Orphanet]
|
|
|
|
150 / 7739
|
21
|
(HPO:0001177)
|
Preaxial hand polydactyly |
Occasional [Orphanet]
|
|
|
|
59 / 7739
|
22
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
23
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
24
|
(HPO:0001357)
|
Plagiocephaly |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
25
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
26
|
(HPO:0001537)
|
Umbilical hernia |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
27
|
(HPO:0002007)
|
Frontal bossing |
Occasional [Orphanet]
|
|
|
|
366 / 7739
|
28
|
(HPO:0002162)
|
Low posterior hairline |
Frequent [Orphanet]
|
|
|
|
88 / 7739
|
29
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
30
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
31
|
(HPO:0002414)
|
Spina bifida |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
32
|
(HPO:0002553)
|
Highly arched eyebrow |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
33
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
34
|
(HPO:0002714)
|
Downturned corners of mouth |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
35
|
(HPO:0003196)
|
Short nose |
Frequent [Orphanet]
|
|
|
|
264 / 7739
|
36
|
(HPO:0003422)
|
Vertebral segmentation defect |
Occasional [Orphanet]
|
|
|
|
95 / 7739
|
37
|
(HPO:0004349)
|
Reduced bone mineral density |
Occasional [Orphanet]
|
|
|
|
165 / 7739
|
38
|
(HPO:0001545)
|
Anteriorly placed anus |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
39
|
(HPO:0004404)
|
Abnormality of the nipple |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
40
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
41
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
42
|
(HPO:0009738)
|
Abnormality of the antihelix |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
43
|
(HPO:0100490)
|
Camptodactyly of finger |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
44
|
(HPO:0100542)
|
Abnormal localization of kidney |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
45
|
(HPO:0001760)
|
Abnormality of the foot |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
46
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
47
|
(HPO:0001999)
|
Abnormal facial shape |
Very frequent [Orphanet]
|
|
|
|
169 / 7739
|
48
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
49
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
50
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
51
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
52
|
(HPO:0001762)
|
Talipes equinovarus |
Frequent [Orphanet]
|
|
|
|
309 / 7739
|
53
|
(HPO:0000411)
|
Protruding ear |
Very frequent [Orphanet]
|
|
|
|
140 / 7739
|
54
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
55
|
(HPO:0000248)
|
Brachycephaly |
Frequent [Orphanet]
|
|
|
|
222 / 7739
|
56
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
57
|
(HPO:0000077)
|
Abnormality of the kidney |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
58
|
(HPO:0001428)
|
Somatic mutation |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
59
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
60
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
61
|
(HPO:0400004)
|
Long ear |
Frequent [Orphanet]
|
|
|
|
94 / 7739
|
62
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
63
|
(HPO:0011442)
|
Abnormality of central motor function |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
64
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
65
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
66
|
(HPO:0000288)
|
Abnormality of the philtrum |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|