|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
3
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
4
|
(HPO:0000294)
|
Low anterior hairline |
|
|
|
|
52 / 7739
|
|
5
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
6
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
7
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
|
8
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
9
|
(HPO:0000543)
|
Optic disc pallor |
|
|
|
|
67 / 7739
|
|
10
|
(HPO:0000574)
|
Thick eyebrow |
|
|
|
|
96 / 7739
|
|
11
|
(HPO:0000883)
|
Thin ribs |
|
|
|
|
31 / 7739
|
|
12
|
(HPO:0000884)
|
Prominent sternum |
|
|
|
|
11 / 7739
|
|
13
|
(HPO:0000907)
|
Anterior rib cupping |
|
|
|
|
12 / 7739
|
|
14
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
15
|
(HPO:0001169)
|
Broad palm |
|
|
|
|
43 / 7739
|
|
16
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
17
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
18
|
(HPO:0001769)
|
Broad foot |
|
|
|
|
31 / 7739
|
|
19
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
20
|
(HPO:0002188)
|
Delayed CNS myelination |
|
|
|
|
16 / 7739
|
|
21
|
(HPO:0002645)
|
Wormian bones |
|
|
|
|
65 / 7739
|
|
22
|
(HPO:0002651)
|
Spondyloepimetaphyseal dysplasia |
|
|
|
|
19 / 7739
|
|
23
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
24
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
|
25
|
(HPO:0002869)
|
Flared iliac wings |
|
|
|
|
20 / 7739
|
|
26
|
(HPO:0002942)
|
Thoracic kyphosis |
|
|
|
|
14 / 7739
|
|
27
|
(HPO:0003016)
|
Metaphyseal widening |
|
|
|
|
41 / 7739
|
|
28
|
(HPO:0003071)
|
Flattened epiphysis |
|
|
|
|
14 / 7739
|
|
29
|
(HPO:0003311)
|
Hypoplasia of the odontoid process |
|
|
|
|
34 / 7739
|
|
30
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
31
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
32
|
(HPO:0006028)
|
Metaphyseal cupping of metacarpals |
|
|
|
|
4 / 7739
|
|
33
|
(HPO:0006423)
|
Peg-like central prominence of distal tibial metaphyses |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
35
|
(HPO:0008789)
|
Cone-shaped capital femoral epiphysis |
|
|
|
|
2 / 7739
|
|
36
|
(HPO:0009381)
|
Short finger |
|
|
|
|
45 / 7739
|
|
37
|
(HPO:0010585)
|
Small epiphyses |
|
|
|
|
16 / 7739
|
|
38
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
39
|
(HPO:0100864)
|
Short femoral neck |
|
|
|
|
36 / 7739
|
|
40
|
(OMIM)
|
Inferior rib flaring |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Short, hypoplastic femoral necks |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Cone-shaped capital femoral epiphyses |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Small flattened epiphyses (distal femora and proximal tibiae) |
|
|
|
|
3 / 7739
|
|
44
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
45
|
(OMIM)
|
Large, broad hands |
|
|
|
|
1 / 7739
|
|
46
|
(HPO:0003021)
|
Metaphyseal cupping |
|
|
|
|
16 / 7739
|
|
47
|
(OMIM)
|
Large, broad feet |
|
|
|
|
1 / 7739
|
|
48
|
(HPO:0012448)
|
Delayed myelination |
|
|
|
|
51 / 7739
|
|
49
|
(OMIM)
|
Widened subarachnoid spaces |
|
|
|
|
1 / 7739
|
|
50
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
51
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
52
|
(HPO:0012704)
|
Widened subarachnoid space |
|
|
|
|
3 / 7739
|