|
1
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
2
|
(HPO:0009882)
|
Short distal phalanx of finger |
Very frequent [Orphanet]
|
|
|
|
125 / 7739
|
|
3
|
(HPO:0000271)
|
Abnormality of the face |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
4
|
(HPO:0000951)
|
Abnormality of the skin |
Occasional [Orphanet]
|
|
|
|
147 / 7739
|
|
5
|
(HPO:0001903)
|
Anemia |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
|
6
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
|
|
278 / 7739
|
|
7
|
(HPO:0000592)
|
Blue sclerae |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
8
|
(HPO:0001805)
|
Thick nail |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
9
|
(HPO:0001807)
|
Ridged nail |
|
|
|
|
20 / 7739
|
|
10
|
(HPO:0000520)
|
Proptosis |
Frequent [Orphanet]
|
|
|
|
192 / 7739
|
|
11
|
(HPO:0006482)
|
Abnormality of dental morphology |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
12
|
(HPO:0000774)
|
Narrow chest |
Occasional [Orphanet]
|
|
|
|
167 / 7739
|
|
13
|
(HPO:0000189)
|
Narrow palate |
|
|
|
|
45 / 7739
|
|
14
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
15
|
(HPO:0002797)
|
Osteolysis |
Very frequent [Orphanet]
|
|
|
|
68 / 7739
|
|
16
|
(HPO:0000239)
|
Large fontanelles |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
17
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
|
18
|
(HPO:0002653)
|
Bone pain |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
19
|
(HPO:0000924)
|
Abnormality of the skeletal system |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
20
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
21
|
(HPO:0000348)
|
High forehead |
Very frequent [Orphanet]
|
|
|
|
157 / 7739
|
|
22
|
(HPO:0000308)
|
Microretrognathia |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
23
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
24
|
(HPO:0002754)
|
Osteomyelitis |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
|
25
|
(HPO:0000684)
|
Delayed eruption of teeth |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
26
|
(HPO:0011800)
|
Midface retrusion |
Very frequent [Orphanet]
|
|
|
|
221 / 7739
|
|
27
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Very frequent [Orphanet]
|
|
|
|
110 / 7739
|
|
28
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
|
29
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
30
|
(HPO:0001744)
|
Splenomegaly |
Occasional [Orphanet]
|
|
|
|
337 / 7739
|
|
31
|
(HPO:0002240)
|
Hepatomegaly |
Occasional [Orphanet]
|
|
|
|
467 / 7739
|
|
32
|
(HPO:0003307)
|
Hyperlordosis |
Occasional [Orphanet]
|
|
|
|
122 / 7739
|
|
33
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
34
|
(HPO:0006660)
|
Aplastic clavicles |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
35
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
36
|
(HPO:0002645)
|
Wormian bones |
Frequent [Orphanet]
|
|
|
|
65 / 7739
|
|
37
|
(HPO:0001597)
|
Abnormality of the nail |
Occasional [Orphanet]
|
|
|
|
115 / 7739
|
|
38
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Very frequent [Orphanet]
|
|
|
|
77 / 7739
|
|
39
|
(HPO:0000269)
|
Prominent occiput |
|
|
|
|
43 / 7739
|
|
40
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
|
41
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
|
42
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
|
43
|
(HPO:0000680)
|
Delayed eruption of primary teeth |
|
|
|
|
10 / 7739
|
|
44
|
(HPO:0000696)
|
Delayed eruption of permanent teeth |
|
|
|
|
12 / 7739
|
|
45
|
(HPO:0000765)
|
Abnormality of the thorax |
|
|
|
|
64 / 7739
|
|
46
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
47
|
(HPO:0002688)
|
Absent frontal sinuses |
|
|
|
|
12 / 7739
|
|
48
|
(HPO:0002793)
|
Abnormal pattern of respiration |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
|
49
|
(HPO:0003302)
|
Spondylolisthesis |
|
|
|
|
14 / 7739
|
|
50
|
(HPO:0003304)
|
Spondylolysis |
|
|
|
|
11 / 7739
|
|
51
|
(HPO:0004474)
|
Persistent open anterior fontanelle |
|
|
|
|
4 / 7739
|
|
52
|
(HPO:0006335)
|
Persistence of primary teeth |
|
|
|
|
12 / 7739
|
|
53
|
(HPO:0009839)
|
Osteolytic defects of the distal phalanges of the hand |
|
|
|
|
6 / 7739
|
|
54
|
(HPO:0011001)
|
Increased bone mineral density |
|
|
|
|
78 / 7739
|
|
55
|
(OMIM)
|
Adult height less than 150 cm |
|
|
|
|
1 / 7739
|
|
56
|
(OMIM)
|
Frontal and occipital prominence |
|
|
|
|
1 / 7739
|
|
57
|
(OMIM)
|
Aplasia of clavicle |
|
|
|
|
2 / 7739
|
|
58
|
(OMIM)
|
Hypoplasia of clavicle |
|
|
|
|
1 / 7739
|
|
59
|
(OMIM)
|
Susceptibility to fracture |
|
|
|
|
1 / 7739
|
|
60
|
(OMIM)
|
Dense skull |
|
|
|
|
1 / 7739
|
|
61
|
(OMIM)
|
Delayed suture closure |
|
|
|
|
1 / 7739
|
|
62
|
(OMIM)
|
Obtuse angle to mandible |
|
|
|
|
1 / 7739
|
|
63
|
(OMIM)
|
Narrow ilia |
|
|
|
|
1 / 7739
|
|
64
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
65
|
(OMIM)
|
Wrinkled skin over dorsa of fingers |
|
|
|
|
1 / 7739
|
|
66
|
(OMIM)
|
Flattened nails |
|
|
|
|
1 / 7739
|
|
67
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
68
|
(HPO:0001804)
|
Hypoplastic fingernail |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
69
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Very frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
70
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Occasional [Orphanet]
|
|
|
|
123 / 7739
|
|
71
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
72
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
73
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
74
|
(HPO:0002644)
|
Abnormality of pelvic girdle bone morphology |
|
|
|
|
31 / 7739
|