|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0004437)
|
Cranial hyperostosis |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
3
|
(HPO:0011001)
|
Increased bone mineral density |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
4
|
(HPO:0009882)
|
Short distal phalanx of finger |
Frequent [Orphanet]
|
|
|
|
125 / 7739
|
|
5
|
(HPO:0010044)
|
Short 4th metacarpal |
|
|
|
|
14 / 7739
|
|
6
|
(HPO:0010047)
|
Short 5th metacarpal |
|
|
|
|
8 / 7739
|
|
7
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
8
|
(HPO:0002688)
|
Absent frontal sinuses |
|
|
|
|
12 / 7739
|
|
9
|
(HPO:0005048)
|
Synostosis of carpal bones |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
|
10
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
11
|
(HPO:0010109)
|
Short hallux |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
12
|
(HPO:0006487)
|
Bowing of the long bones |
Frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
13
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
14
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
|
15
|
(HPO:0001852)
|
Sandal gap |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
|
16
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
17
|
(HPO:0000336)
|
Prominent supraorbital ridges |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
18
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
19
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
20
|
(HPO:0003042)
|
Elbow dislocation |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
21
|
(HPO:0009623)
|
Proximal placement of thumb |
Frequent [Orphanet]
|
|
|
|
50 / 7739
|
|
22
|
(HPO:0001850)
|
Abnormality of the tarsal bones |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
|
23
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Occasional [Orphanet]
|
|
|
|
77 / 7739
|
|
24
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
25
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
26
|
(HPO:0000269)
|
Prominent occiput |
|
|
|
|
43 / 7739
|
|
27
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
28
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
|
29
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
30
|
(HPO:0001241)
|
Capitate-hamate fusion |
|
|
|
|
6 / 7739
|
|
31
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
32
|
(HPO:0001377)
|
Limited elbow extension |
|
|
|
|
38 / 7739
|
|
33
|
(HPO:0001476)
|
Delayed closure of the anterior fontanelle |
|
|
|
|
23 / 7739
|
|
34
|
(HPO:0001539)
|
Omphalocele |
|
|
|
|
102 / 7739
|
|
35
|
(HPO:0001571)
|
Multiple impacted teeth |
|
|
|
|
5 / 7739
|
|
36
|
(HPO:0001592)
|
Selective tooth agenesis |
|
|
|
|
16 / 7739
|
|
37
|
(HPO:0001770)
|
Toe syndactyly |
|
|
|
|
149 / 7739
|
|
38
|
(HPO:0001782)
|
Bulbous tips of toes |
|
|
|
|
2 / 7739
|
|
39
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
40
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
41
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
42
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
|
43
|
(HPO:0002737)
|
Thick skull base |
|
|
|
|
3 / 7739
|
|
44
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
45
|
(HPO:0003083)
|
Dislocated radial head |
|
|
|
|
35 / 7739
|
|
46
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
47
|
(HPO:0004232)
|
Accessory carpal bones |
|
|
|
|
2 / 7739
|
|
48
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
49
|
(HPO:0005090)
|
Lateral femoral bowing |
|
|
|
|
2 / 7739
|
|
50
|
(HPO:0006389)
|
Limited knee flexion |
|
|
|
|
2 / 7739
|
|
51
|
(HPO:0008089)
|
Abnormality of the fifth metatarsal bone |
|
|
|
|
1 / 7739
|
|
52
|
(HPO:0008127)
|
Bipartite calcaneus |
|
|
|
|
4 / 7739
|
|
53
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
|
54
|
(HPO:0009642)
|
Broad distal phalanx of the thumb |
|
|
|
|
4 / 7739
|
|
55
|
(HPO:0009804)
|
Reduced number of teeth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
56
|
(HPO:0010041)
|
Short 3rd metacarpal |
|
|
|
|
5 / 7739
|
|
57
|
(HPO:0010055)
|
Broad hallux |
|
|
|
|
56 / 7739
|
|
58
|
(HPO:0012368)
|
Flat face |
|
|
|
|
106 / 7739
|
|
59
|
(OMIM)
|
Absent sphenoid sinuses |
|
|
|
|
1 / 7739
|
|
60
|
(OMIM)
|
Thick frontal bone |
|
|
|
|
1 / 7739
|
|
61
|
(OMIM)
|
Steep clivus |
|
|
|
|
1 / 7739
|
|
62
|
(OMIM)
|
Dense middle-ear ossicles |
|
|
|
|
1 / 7739
|
|
63
|
(OMIM)
|
Small pedicles |
|
|
|
|
1 / 7739
|
|
64
|
(OMIM)
|
Small iliac crests |
|
|
|
|
1 / 7739
|
|
65
|
(OMIM)
|
Flat acetabulum |
|
|
|
|
1 / 7739
|
|
66
|
(OMIM)
|
Mild, lateral femoral bowing |
|
|
|
|
1 / 7739
|
|
67
|
(OMIM)
|
Short, broad distal phalanges, especially thumbs |
|
|
|
|
1 / 7739
|
|
68
|
(OMIM)
|
Short square nails |
|
|
|
|
1 / 7739
|
|
69
|
(OMIM)
|
Short third, fourth, fifth metacarpals |
|
|
|
|
1 / 7739
|
|
70
|
(OMIM)
|
Short, broad halluces |
|
|
|
|
2 / 7739
|
|
71
|
(OMIM)
|
Anomalous fifth metatarsal |
|
|
|
|
1 / 7739
|
|
72
|
(OMIM)
|
'Tree-frog' feet |
|
|
|
|
2 / 7739
|
|
73
|
(OMIM)
|
Short square fingernails |
|
|
|
|
1 / 7739
|
|
74
|
(HPO:0009119)
|
Aplasia/Hypoplasia of the frontal sinuses |
Frequent [Orphanet]
|
|
|
|
6 / 7739
|
|
75
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
76
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
77
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|