1
|
(HPO:0000049)
|
Shawl scrotum |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
2
|
(HPO:0000204)
|
Cleft upper lip |
Occasional [Orphanet]
|
|
|
|
193 / 7739
|
3
|
(HPO:0000232)
|
Everted lower lip vermilion |
Very frequent [Orphanet]
|
|
|
|
90 / 7739
|
4
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
5
|
(HPO:0000311)
|
Round face |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
6
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
7
|
(HPO:0000337)
|
Broad forehead |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
8
|
(HPO:0000343)
|
Long philtrum |
Frequent [Orphanet]
|
|
|
|
262 / 7739
|
9
|
(HPO:0000431)
|
Wide nasal bridge |
Frequent [Orphanet]
|
|
|
|
290 / 7739
|
10
|
(HPO:0000463)
|
Anteverted nares |
Frequent [Orphanet]
|
|
|
|
305 / 7739
|
11
|
(HPO:0000470)
|
Short neck |
Occasional [Orphanet]
|
|
|
|
345 / 7739
|
12
|
(HPO:0000485)
|
Megalocornea |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
13
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
14
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
15
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
16
|
(HPO:0000684)
|
Delayed eruption of teeth |
Occasional [Orphanet]
|
|
|
|
117 / 7739
|
17
|
(HPO:0000767)
|
Pectus excavatum |
Occasional [Orphanet]
|
|
|
|
244 / 7739
|
18
|
(HPO:0000954)
|
Single transverse palmar crease |
Occasional [Orphanet]
|
|
|
|
162 / 7739
|
19
|
(HPO:0000974)
|
Hyperextensible skin |
Frequent [Orphanet]
|
|
|
|
59 / 7739
|
20
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
21
|
(HPO:0001537)
|
Umbilical hernia |
Very frequent [Orphanet]
|
|
|
|
206 / 7739
|
22
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
23
|
(HPO:0001763)
|
Pes planus |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
24
|
(HPO:0001769)
|
Broad foot |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
25
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
26
|
(HPO:0002816)
|
Genu recurvatum |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
27
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
28
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
29
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
30
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
31
|
(HPO:0000356)
|
Abnormality of the outer ear |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
32
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
33
|
(HPO:0001155)
|
Abnormality of the hand |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
34
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
35
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
Occasional [Orphanet]
|
|
|
|
129 / 7739
|
36
|
(HPO:0000708)
|
Behavioral abnormality |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
37
|
(HPO:0000752)
|
Hyperactivity |
Occasional [Orphanet]
|
|
|
|
140 / 7739
|
38
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Occasional [Orphanet]
|
|
|
|
77 / 7739
|
39
|
(HPO:0001762)
|
Talipes equinovarus |
Occasional [Orphanet]
|
|
|
|
309 / 7739
|
40
|
(HPO:0000202)
|
Oral cleft |
Occasional [Orphanet]
|
|
|
|
120 / 7739
|
41
|
(HPO:0200055)
|
Small hand |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
42
|
(HPO:0000349)
|
Widow's peak |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
43
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
44
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Very frequent [Orphanet]
|
|
|
|
69 / 7739
|
45
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
46
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
47
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
48
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
49
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
50
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
51
|
(HPO:0000394)
|
Lop ear |
|
|
|
|
6 / 7739
|
52
|
(HPO:0000484)
|
Hyperopic astigmatism |
|
|
|
|
8 / 7739
|
53
|
(HPO:0000602)
|
Ophthalmoplegia |
|
|
|
|
56 / 7739
|
54
|
(HPO:0000765)
|
Abnormality of the thorax |
|
|
|
|
64 / 7739
|
55
|
(HPO:0001004)
|
Lymphedema |
|
|
|
|
62 / 7739
|
56
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
57
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
58
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
59
|
(HPO:0001380)
|
Ligamentous laxity |
|
|
|
|
8 / 7739
|
60
|
(HPO:0001394)
|
Cirrhosis |
|
|
|
|
102 / 7739
|
61
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|
62
|
(HPO:0001470)
|
Sex-limited autosomal dominant |
|
|
|
|
7 / 7739
|
63
|
(HPO:0001972)
|
Macrocytic anemia |
|
|
|
|
26 / 7739
|
64
|
(HPO:0002023)
|
Anal atresia |
|
|
|
|
135 / 7739
|
65
|
(HPO:0002055)
|
Curved linear dimple below the lower lip |
|
|
|
|
3 / 7739
|
66
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
67
|
(HPO:0003318)
|
Cervical spine hypermobility |
|
|
|
|
3 / 7739
|
68
|
(HPO:0003502)
|
Mild short stature |
|
|
|
|
19 / 7739
|
69
|
(HPO:0004792)
|
Rectoperineal fistula |
|
|
|
|
3 / 7739
|
70
|
(HPO:0005190)
|
Proximal finger joint hyperextensibility |
|
|
|
|
2 / 7739
|
71
|
(HPO:0006530)
|
Interstitial pulmonary disease |
|
|
|
|
26 / 7739
|
72
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
73
|
(HPO:0010886)
|
Osteochondritis Dissecans |
|
|
|
|
9 / 7739
|
74
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|