1
|
(HPO:0000768)
|
Pectus carinatum |
Very frequent [Orphanet]
|
|
|
|
136 / 7739
|
2
|
(HPO:0009882)
|
Short distal phalanx of finger |
Occasional [Orphanet]
|
|
|
|
125 / 7739
|
3
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
4
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
5
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
6
|
(HPO:0000160)
|
Narrow mouth |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
7
|
(HPO:0000275)
|
Narrow face |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
8
|
(HPO:0000276)
|
Long face |
Occasional [Orphanet]
|
|
|
|
109 / 7739
|
9
|
(HPO:0000581)
|
Blepharophimosis |
Occasional [Orphanet]
|
|
|
|
197 / 7739
|
10
|
(HPO:0002553)
|
Highly arched eyebrow |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
11
|
(HPO:0000385)
|
Small earlobe |
|
|
|
|
9 / 7739
|
12
|
(HPO:0009891)
|
Underdeveloped supraorbital ridges |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
13
|
(HPO:0000960)
|
Sacral dimple |
|
|
|
|
29 / 7739
|
14
|
(HPO:0010769)
|
Pilonidal sinus |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
15
|
(HPO:0000303)
|
Mandibular prognathia |
Frequent [Orphanet]
|
|
|
|
179 / 7739
|
16
|
(HPO:0001822)
|
Hallux valgus |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
17
|
(HPO:0000767)
|
Pectus excavatum |
Very frequent [Orphanet]
|
|
|
|
244 / 7739
|
18
|
(HPO:0002967)
|
Cubitus valgus |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
19
|
(HPO:0000774)
|
Narrow chest |
Frequent [Orphanet]
|
|
|
|
167 / 7739
|
20
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
21
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
22
|
(HPO:0000248)
|
Brachycephaly |
Frequent [Orphanet]
|
|
|
|
222 / 7739
|
23
|
(HPO:0005280)
|
Depressed nasal bridge |
Frequent [Orphanet]
|
|
|
|
381 / 7739
|
24
|
(HPO:0000912)
|
Sprengel anomaly |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
25
|
(HPO:0000482)
|
Microcornea |
Frequent [Orphanet]
|
|
|
|
102 / 7739
|
26
|
(HPO:0000664)
|
Synophrys |
Occasional [Orphanet]
|
|
|
|
112 / 7739
|
27
|
(HPO:0011800)
|
Midface retrusion |
Very frequent [Orphanet]
|
|
|
|
221 / 7739
|
28
|
(HPO:0000506)
|
Telecanthus |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
29
|
(HPO:0001770)
|
Toe syndactyly |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
30
|
(HPO:0000463)
|
Anteverted nares |
Frequent [Orphanet]
|
|
|
|
305 / 7739
|
31
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
32
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
33
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
34
|
(HPO:0003196)
|
Short nose |
Frequent [Orphanet]
|
|
|
|
264 / 7739
|
35
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
36
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
37
|
(HPO:0000995)
|
Melanocytic nevus |
Frequent [Orphanet]
|
|
|
|
63 / 7739
|
38
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
|
|
358 / 7739
|
39
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
40
|
(HPO:0002414)
|
Spina bifida |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
41
|
(HPO:0002714)
|
Downturned corners of mouth |
Frequent [Orphanet]
|
|
|
|
98 / 7739
|
42
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
43
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
44
|
(HPO:0002750)
|
Delayed skeletal maturation |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
45
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
46
|
(HPO:0000689)
|
Dental malocclusion |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
47
|
(HPO:0012368)
|
Flat face |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
48
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
49
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
50
|
(HPO:0000472)
|
Long neck |
|
|
|
|
8 / 7739
|
51
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
52
|
(HPO:0001215)
|
Camptodactyly of 2nd-5th fingers |
|
|
|
|
8 / 7739
|
53
|
(HPO:0002645)
|
Wormian bones |
|
|
|
|
65 / 7739
|
54
|
(HPO:0002688)
|
Absent frontal sinuses |
|
|
|
|
12 / 7739
|
55
|
(HPO:0002866)
|
Hypoplastic iliac wing |
|
|
|
|
34 / 7739
|
56
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
57
|
(HPO:0003038)
|
Fibular hypoplasia |
|
|
|
|
30 / 7739
|
58
|
(HPO:0003298)
|
Spina bifida occulta |
|
|
|
|
67 / 7739
|
59
|
(HPO:0003440)
|
Horizontal sacrum |
|
|
|
|
5 / 7739
|
60
|
(HPO:0003691)
|
Scapular winging |
|
|
|
|
51 / 7739
|
61
|
(HPO:0004453)
|
Overfolding of the superior helices |
|
|
|
|
5 / 7739
|
62
|
(HPO:0005456)
|
Absent ethmoidal sinuses |
|
|
|
|
1 / 7739
|
63
|
(HPO:0006166)
|
Tubular metacarpal bones |
|
|
|
|
1 / 7739
|
64
|
(HPO:0006292)
|
Abnormality of dental eruption |
|
|
|
|
1 / 7739
|
65
|
(HPO:0006668)
|
Twelfth rib hypoplasia |
|
|
|
|
1 / 7739
|
66
|
(HPO:0008424)
|
Hypoplastic 5th lumbar vertebrae |
|
|
|
|
1 / 7739
|
67
|
(HPO:0009906)
|
Aplasia/Hypoplasia of the earlobes |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
68
|
(HPO:0004686)
|
Short third metatarsal |
|
|
|
|
9 / 7739
|
69
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
70
|
(HPO:0100864)
|
Short femoral neck |
|
|
|
|
36 / 7739
|
71
|
(OMIM)
|
Small, downturned mouth |
|
|
|
|
1 / 7739
|
72
|
(OMIM)
|
Downslanting ribs |
|
|
|
|
1 / 7739
|
73
|
(OMIM)
|
Absent frontal and ethmoidal sinuses |
|
|
|
|
1 / 7739
|
74
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
75
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
76
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
77
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
78
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
79
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
80
|
(HPO:0008772)
|
Aplasia/Hypoplasia of the external ear |
Very frequent [Orphanet]
|
|
|
|
67 / 7739
|
81
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
82
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
83
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
84
|
(HPO:0012745)
|
Short palpebral fissure |
|
|
|
|
47 / 7739
|