1
|
(HPO:0000130)
|
Abnormality of the uterus |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
2
|
(HPO:0000768)
|
Pectus carinatum |
Frequent [Orphanet]
|
|
|
|
136 / 7739
|
3
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
4
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
5
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
6
|
(HPO:0000275)
|
Narrow face |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
7
|
(HPO:0000104)
|
Renal agenesis |
|
|
|
|
68 / 7739
|
8
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
9
|
(HPO:0000202)
|
Oral cleft |
Occasional [Orphanet]
|
|
|
|
120 / 7739
|
10
|
(HPO:0002992)
|
Abnormality of the tibia |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
11
|
(HPO:0002997)
|
Abnormality of the ulna |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
12
|
(HPO:0003022)
|
Hypoplasia of the ulna |
|
|
|
|
40 / 7739
|
13
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
14
|
(HPO:0000189)
|
Narrow palate |
|
|
|
|
45 / 7739
|
15
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
16
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
17
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
18
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
19
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
20
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
21
|
(HPO:0002984)
|
Hypoplasia of the radius |
|
|
|
|
44 / 7739
|
22
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|
23
|
(HPO:0004060)
|
Trident hand |
Very frequent [Orphanet]
|
|
|
|
13 / 7739
|
24
|
(HPO:0001839)
|
Split foot |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
25
|
(HPO:0000912)
|
Sprengel anomaly |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
26
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
27
|
(HPO:0000308)
|
Microretrognathia |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
28
|
(HPO:0002575)
|
Tracheoesophageal fistula |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
29
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
30
|
(HPO:0000171)
|
Microglossia |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
31
|
(HPO:0002101)
|
Abnormal lung lobation |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
32
|
(HPO:0002991)
|
Abnormality of the fibula |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
33
|
(HPO:0006381)
|
Rudimentary fibula |
|
|
|
|
4 / 7739
|
34
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Occasional [Orphanet]
|
|
|
|
172 / 7739
|
35
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
|
|
358 / 7739
|
36
|
(HPO:0006660)
|
Aplastic clavicles |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
37
|
(HPO:0000775)
|
Abnormality of the diaphragm |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
38
|
(HPO:0000776)
|
Congenital diaphragmatic hernia |
|
|
|
|
36 / 7739
|
39
|
(HPO:0000322)
|
Short philtrum |
Occasional [Orphanet]
|
|
|
|
130 / 7739
|
40
|
(HPO:0001562)
|
Oligohydramnios |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
41
|
(HPO:0000069)
|
Abnormality of the ureter |
|
|
|
|
47 / 7739
|
42
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
|
|
|
|
75 / 7739
|
43
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
44
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
45
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
46
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
47
|
(HPO:0000813)
|
Bicornuate uterus |
|
|
|
|
22 / 7739
|
48
|
(HPO:0000882)
|
Hypoplastic scapulae |
|
|
|
|
28 / 7739
|
49
|
(HPO:0000883)
|
Thin ribs |
|
|
|
|
31 / 7739
|
50
|
(HPO:0000921)
|
Missing ribs |
|
|
|
|
62 / 7739
|
51
|
(HPO:0001161)
|
Hand polydactyly |
|
|
|
|
71 / 7739
|
52
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
|
|
|
|
73 / 7739
|
53
|
(HPO:0001770)
|
Toe syndactyly |
|
|
|
|
149 / 7739
|
54
|
(HPO:0001829)
|
Foot polydactyly |
|
|
|
|
41 / 7739
|
55
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
56
|
(HPO:0002937)
|
Hemivertebrae |
|
|
|
|
41 / 7739
|
57
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
58
|
(HPO:0003316)
|
Butterfly vertebrae |
|
|
|
|
6 / 7739
|
59
|
(HPO:0003762)
|
Uterus didelphys |
|
|
|
|
8 / 7739
|
60
|
(HPO:0004408)
|
Abnormality of the sense of smell |
Frequent [Orphanet]
|
|
|
|
28 / 7739
|
61
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
62
|
(HPO:0006426)
|
Rudimentary to absent tibiae |
|
|
|
|
1 / 7739
|
63
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
64
|
(HPO:0008468)
|
Abnormal sacral segmentation |
|
|
|
|
2 / 7739
|
65
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Very frequent [Orphanet]
|
|
|
|
127 / 7739
|
66
|
(OMIM)
|
Severe micrognathia |
|
|
|
|
3 / 7739
|
67
|
(OMIM)
|
Aberrant origin vertebral artery |
|
|
|
|
1 / 7739
|
68
|
(OMIM)
|
Irregular, thin ribs |
|
|
|
|
1 / 7739
|
69
|
(OMIM)
|
Athelia |
|
|
|
|
2 / 7739
|
70
|
(OMIM)
|
Unicornuate uterus |
|
|
|
|
3 / 7739
|
71
|
(OMIM)
|
Single fallopian tube |
|
|
|
|
1 / 7739
|
72
|
(OMIM)
|
Absent ureters |
|
|
|
|
1 / 7739
|
73
|
(OMIM)
|
Absent bladder |
|
|
|
|
1 / 7739
|
74
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
75
|
(HPO:0010442)
|
Polydactyly |
|
|
|
|
69 / 7739
|
76
|
(OMIM)
|
Absent olfactory bulbs and tracts |
|
|
|
|
2 / 7739
|
77
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
78
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
79
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
80
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
81
|
(HPO:0002561)
|
Absent nipple |
|
|
|
|
12 / 7739
|