|
1
|
(HPO:0001180)
|
Hand oligodactyly |
|
|
|
|
17 / 7739
|
|
2
|
(HPO:0009380)
|
Aplasia of the fingers |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
3
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
4
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
5
|
(HPO:0004684)
|
Talipes valgus |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
|
6
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
7
|
(HPO:0000581)
|
Blepharophimosis |
Very frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
8
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
|
|
278 / 7739
|
|
9
|
(HPO:0000528)
|
Anophthalmia |
|
|
|
|
42 / 7739
|
|
10
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
11
|
(HPO:0005293)
|
Venous insufficiency |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
|
12
|
(HPO:0001852)
|
Sandal gap |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
|
13
|
(HPO:0100240)
|
Synostosis of joints |
Very frequent [Orphanet]
|
|
|
|
11 / 7739
|
|
14
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
15
|
(HPO:0002992)
|
Abnormality of the tibia |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
16
|
(HPO:0001161)
|
Hand polydactyly |
Frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
17
|
(HPO:0001850)
|
Abnormality of the tarsal bones |
Frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
18
|
(HPO:0005048)
|
Synostosis of carpal bones |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
19
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
|
20
|
(HPO:0001770)
|
Toe syndactyly |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
21
|
(HPO:0000204)
|
Cleft upper lip |
Frequent [Orphanet]
|
|
|
|
193 / 7739
|
|
22
|
(HPO:0002991)
|
Abnormality of the fibula |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
23
|
(HPO:0003038)
|
Fibular hypoplasia |
|
|
|
|
30 / 7739
|
|
24
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
25
|
(HPO:0000954)
|
Single transverse palmar crease |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
26
|
(HPO:0001830)
|
Postaxial foot polydactyly |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
|
27
|
(HPO:0002814)
|
Abnormality of the lower limb |
Very frequent [Orphanet]
|
|
|
|
23 / 7739
|
|
28
|
(HPO:0010650)
|
Hypoplasia of the premaxilla |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
|
29
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
30
|
(HPO:0000534)
|
Abnormality of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
31
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
32
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
33
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
34
|
(HPO:0000454)
|
Flared nostrils |
|
|
|
|
11 / 7739
|
|
35
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
36
|
(HPO:0001162)
|
Postaxial hand polydactyly |
|
|
|
|
119 / 7739
|
|
37
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
38
|
(HPO:0001172)
|
Abnormality of the thumb |
Frequent [Orphanet]
|
|
|
|
103 / 7739
|
|
39
|
(HPO:0001215)
|
Camptodactyly of 2nd-5th fingers |
|
|
|
|
8 / 7739
|
|
40
|
(HPO:0001595)
|
Abnormality of the hair |
|
|
|
|
89 / 7739
|
|
41
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
|
|
|
|
73 / 7739
|
|
42
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
43
|
(HPO:0001849)
|
Foot oligodactyly |
|
|
|
|
9 / 7739
|
|
44
|
(HPO:0002002)
|
Deep philtrum |
|
|
|
|
42 / 7739
|
|
45
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
46
|
(HPO:0002982)
|
Tibial bowing |
|
|
|
|
36 / 7739
|
|
47
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
48
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
49
|
(HPO:0005867)
|
Fused fourth and fifth metacarpals |
|
|
|
|
3 / 7739
|
|
50
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
51
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
52
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
53
|
(HPO:0100542)
|
Abnormal localization of kidney |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
|
54
|
(OMIM)
|
Small orbits |
|
|
|
|
2 / 7739
|
|
55
|
(OMIM)
|
Normal eyebrows and eyelashes |
|
|
|
|
2 / 7739
|
|
56
|
(OMIM)
|
Inferior vena cava interruption with azygos continuation |
|
|
|
|
1 / 7739
|
|
57
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
|
58
|
(HPO:0012165)
|
Oligodactyly |
|
|
|
|
18 / 7739
|
|
59
|
(HPO:0100259)
|
Postaxial polydactyly |
|
|
|
|
85 / 7739
|
|
60
|
(OMIM)
|
Eyelashes normal |
|
|
|
|
3 / 7739
|
|
61
|
(OMIM)
|
Normal eyebrows |
|
|
|
|
1 / 7739
|
|
62
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
63
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
64
|
(HPO:0009115)
|
Aplasia/hypoplasia involving the skeleton |
Frequent [Orphanet]
|
|
|
|
7 / 7739
|
|
65
|
(HPO:0012443)
|
Abnormality of brain morphology |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
|
66
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
67
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
68
|
(HPO:0040065)
|
Abnormal morphology of bones of the upper limbs |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
69
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
|
70
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
|
71
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
72
|
(HPO:0012745)
|
Short palpebral fissure |
|
|
|
|
47 / 7739
|