1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
2
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
3
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
4
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
5
|
(HPO:0000464)
|
Abnormality of the neck |
|
|
|
|
31 / 7739
|
6
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
7
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
8
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
9
|
(HPO:0005257)
|
Thoracic hypoplasia |
|
|
|
|
79 / 7739
|
10
|
(HPO:0000907)
|
Anterior rib cupping |
|
|
|
|
12 / 7739
|
11
|
(HPO:0000922)
|
Posterior rib cupping |
|
|
|
|
6 / 7739
|
12
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
13
|
(HPO:0001230)
|
Broad metacarpals |
|
|
|
|
17 / 7739
|
14
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
15
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
16
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
17
|
(HPO:0001591)
|
Bell-shaped thorax |
|
|
|
|
35 / 7739
|
18
|
(HPO:0001840)
|
Metatarsus adductus |
|
|
|
|
49 / 7739
|
19
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
20
|
(HPO:0002091)
|
Restrictive ventilatory defect |
|
|
|
|
46 / 7739
|
21
|
(HPO:0002176)
|
Spinal cord compression |
|
|
|
|
15 / 7739
|
22
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
23
|
(HPO:0002651)
|
Spondyloepimetaphyseal dysplasia |
|
|
|
|
19 / 7739
|
24
|
(HPO:0002787)
|
Tracheal calcification |
|
|
|
|
3 / 7739
|
25
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
26
|
(HPO:0002869)
|
Flared iliac wings |
|
|
|
|
20 / 7739
|
27
|
(HPO:0002983)
|
Micromelia |
|
|
|
|
130 / 7739
|
28
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
29
|
(HPO:0003015)
|
Flared metaphysis |
|
|
|
|
44 / 7739
|
30
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
31
|
(HPO:0003085)
|
Long fibula |
|
|
|
|
5 / 7739
|
32
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
33
|
(HPO:0003311)
|
Hypoplasia of the odontoid process |
|
|
|
|
34 / 7739
|
34
|
(HPO:0003320)
|
C1-C2 subluxation |
|
|
|
|
5 / 7739
|
35
|
(HPO:0003396)
|
Syringomyelia |
|
|
|
|
16 / 7739
|
36
|
(HPO:0003467)
|
Atlantoaxial instability |
|
|
|
|
6 / 7739
|
37
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
38
|
(HPO:0005462)
|
Calcification of falx cerebri |
|
|
|
|
6 / 7739
|
39
|
(HPO:0006009)
|
Broad phalanx |
|
|
|
|
11 / 7739
|
40
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
41
|
(HPO:0006532)
|
Recurrent pneumonia |
|
|
|
|
48 / 7739
|
42
|
(HPO:0006600)
|
Progressive calcification of costochondral cartilage |
|
|
|
|
1 / 7739
|
43
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
44
|
(HPO:0009164)
|
Abnormal calcification of the carpal bones |
|
|
|
|
1 / 7739
|
45
|
(HPO:0009875)
|
Triangular shaped distal phalanges of the hand |
|
|
|
|
1 / 7739
|
46
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
47
|
(HPO:0010655)
|
Epiphyseal stippling |
|
|
|
|
32 / 7739
|
48
|
(OMIM)
|
Broad nares |
|
|
|
|
2 / 7739
|
49
|
(OMIM)
|
Calcified styloid process |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Calcified stylomandibular ligaments |
|
|
|
|
1 / 7739
|
51
|
(OMIM)
|
Calcified thyroid cartilage |
|
|
|
|
1 / 7739
|
52
|
(OMIM)
|
Calcified cricoid cartilage |
|
|
|
|
1 / 7739
|
53
|
(OMIM)
|
Calcified body and greater cornua of hyoid |
|
|
|
|
1 / 7739
|
54
|
(OMIM)
|
Trachea calcifications |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
Bronchi calcifications |
|
|
|
|
1 / 7739
|
56
|
(OMIM)
|
Calcified coracoclavicular ligament |
|
|
|
|
1 / 7739
|
57
|
(OMIM)
|
Calcified coracoacromial ligament |
|
|
|
|
1 / 7739
|
58
|
(OMIM)
|
Short sciatic notch |
|
|
|
|
1 / 7739
|
59
|
(OMIM)
|
Short ischia |
|
|
|
|
2 / 7739
|
60
|
(OMIM)
|
Short limbs |
|
|
|
|
17 / 7739
|
61
|
(OMIM)
|
Short, broad tubular bones |
|
|
|
|
2 / 7739
|
62
|
(OMIM)
|
Calcified patellae |
|
|
|
|
1 / 7739
|
63
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
64
|
(OMIM)
|
Short, wide phalanges |
|
|
|
|
1 / 7739
|
65
|
(OMIM)
|
Triangular shaped distal phalanges |
|
|
|
|
1 / 7739
|
66
|
(OMIM)
|
Short, wide metacarpals (wider distally than proximally) |
|
|
|
|
1 / 7739
|
67
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
68
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
69
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
70
|
(HPO:0002979)
|
Bowing of the legs |
|
|
|
|
28 / 7739
|
71
|
(HPO:0030043)
|
Hip Subluxation |
|
|
|
|
9 / 7739
|
72
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|