1
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
2
|
(HPO:0000233)
|
Thin vermilion border |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
3
|
(HPO:0009800)
|
Maternal diabetes |
Frequent [Orphanet]
frequent [HPO:skoehler]
|
|
|
|
14 / 7739
|
4
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
5
|
(HPO:0002974)
|
Radioulnar synostosis |
Occasional [Orphanet]
|
|
|
|
52 / 7739
|
6
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
7
|
(HPO:0001762)
|
Talipes equinovarus |
Frequent [Orphanet]
|
|
|
|
309 / 7739
|
8
|
(HPO:0000104)
|
Renal agenesis |
|
|
|
|
68 / 7739
|
9
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
10
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
11
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
12
|
(HPO:0000202)
|
Oral cleft |
Frequent [Orphanet]
|
|
|
|
120 / 7739
|
13
|
(HPO:0002992)
|
Abnormality of the tibia |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
14
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
15
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Frequent [Orphanet]
|
|
|
|
185 / 7739
|
16
|
(HPO:0002937)
|
Hemivertebrae |
|
|
|
|
41 / 7739
|
17
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
18
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
19
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
20
|
(HPO:0000040)
|
Long penis |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
21
|
(HPO:0000912)
|
Sprengel anomaly |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
22
|
(HPO:0002823)
|
Abnormality of the femur |
Very frequent [Orphanet]
|
|
|
|
61 / 7739
|
23
|
(HPO:0005613)
|
Aplasia/hypoplasia of the femur |
|
|
|
|
5 / 7739
|
24
|
(HPO:0003196)
|
Short nose |
Frequent [Orphanet]
|
|
|
|
264 / 7739
|
25
|
(HPO:0002991)
|
Abnormality of the fibula |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
26
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
27
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
28
|
(HPO:0001841)
|
Preaxial foot polydactyly |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
29
|
(HPO:0002119)
|
Ventriculomegaly |
Occasional [Orphanet]
|
|
|
|
253 / 7739
|
30
|
(HPO:0005107)
|
Abnormality of the sacrum |
Frequent [Orphanet]
|
|
|
|
18 / 7739
|
31
|
(HPO:0000343)
|
Long philtrum |
Frequent [Orphanet]
|
|
|
|
262 / 7739
|
32
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
33
|
(HPO:0000059)
|
Hypoplastic labia majora |
|
|
|
|
22 / 7739
|
34
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
|
|
|
|
75 / 7739
|
35
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
36
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
37
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
38
|
(HPO:0000565)
|
Esotropia |
|
|
|
|
58 / 7739
|
39
|
(HPO:0000772)
|
Abnormality of the ribs |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
40
|
(HPO:0000902)
|
Rib fusion |
|
|
|
|
19 / 7739
|
41
|
(HPO:0000921)
|
Missing ribs |
|
|
|
|
62 / 7739
|
42
|
(HPO:0001177)
|
Preaxial hand polydactyly |
|
|
|
|
59 / 7739
|
43
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
44
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
45
|
(HPO:0001660)
|
Truncus arteriosus |
|
|
|
|
21 / 7739
|
46
|
(HPO:0001770)
|
Toe syndactyly |
|
|
|
|
149 / 7739
|
47
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
48
|
(HPO:0002996)
|
Limited elbow movement |
|
|
|
|
16 / 7739
|
49
|
(HPO:0003041)
|
Humeroradial synostosis |
|
|
|
|
19 / 7739
|
50
|
(HPO:0003274)
|
Hypoplastic acetabulae |
|
|
|
|
7 / 7739
|
51
|
(HPO:0003422)
|
Vertebral segmentation defect |
Frequent [Orphanet]
|
|
|
|
95 / 7739
|
52
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
53
|
(HPO:0004686)
|
Short third metatarsal |
|
|
|
|
9 / 7739
|
54
|
(HPO:0004689)
|
Short fourth metatarsal |
|
|
|
|
9 / 7739
|
55
|
(HPO:0004704)
|
Short fifth metatarsal |
|
|
|
|
3 / 7739
|
56
|
(HPO:0004742)
|
Abnormality of the renal collecting system |
|
|
|
|
4 / 7739
|
57
|
(HPO:0005792)
|
Short humerus |
|
|
|
|
34 / 7739
|
58
|
(HPO:0006467)
|
Limited shoulder movement |
|
|
|
|
3 / 7739
|
59
|
(HPO:0008455)
|
Dysplastic sacrum |
|
|
|
|
2 / 7739
|
60
|
(HPO:0008465)
|
Absent vertebrae |
|
|
|
|
1 / 7739
|
61
|
(HPO:0100542)
|
Abnormal localization of kidney |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
62
|
(OMIM)
|
Poorly formed pinnae |
|
|
|
|
1 / 7739
|
63
|
(OMIM)
|
Constricted iliac base |
|
|
|
|
1 / 7739
|
64
|
(OMIM)
|
Large obturator foramina |
|
|
|
|
1 / 7739
|
65
|
(OMIM)
|
Vertical ischial axis |
|
|
|
|
1 / 7739
|
66
|
(OMIM)
|
Short thighs |
|
|
|
|
1 / 7739
|
67
|
(OMIM)
|
Bilateral, often asymmetric involvement of femora |
|
|
|
|
1 / 7739
|
68
|
(OMIM)
|
Variable fibular involvement |
|
|
|
|
1 / 7739
|
69
|
(OMIM)
|
Variable humeri hypoplasia |
|
|
|
|
1 / 7739
|
70
|
(OMIM)
|
Radiohumeral synostosis |
|
|
|
|
3 / 7739
|
71
|
(OMIM)
|
Short third, fourth, fifth metatarsals |
|
|
|
|
1 / 7739
|
72
|
(HPO:0100258)
|
Preaxial polydactyly |
|
|
|
|
39 / 7739
|
73
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
74
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
75
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
76
|
(HPO:0008905)
|
Rhizomelia |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
77
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
78
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
79
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
80
|
(HPO:0008772)
|
Aplasia/Hypoplasia of the external ear |
Frequent [Orphanet]
|
|
|
|
67 / 7739
|
81
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
82
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
83
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|