|
1
|
(HPO:0000189)
|
Narrow palate |
|
|
|
|
45 / 7739
|
|
2
|
(HPO:0000444)
|
Convex nasal ridge |
|
|
|
|
87 / 7739
|
|
3
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
|
4
|
(HPO:0000946)
|
Hypoplastic ilia |
|
|
|
|
21 / 7739
|
|
5
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
6
|
(HPO:0001377)
|
Limited elbow extension |
|
|
|
|
38 / 7739
|
|
7
|
(HPO:0001799)
|
Short nail |
|
|
|
|
12 / 7739
|
|
8
|
(HPO:0001821)
|
Broad nail |
|
|
|
|
5 / 7739
|
|
9
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
|
10
|
(HPO:0002086)
|
Abnormality of the respiratory system |
|
|
|
|
17 / 7739
|
|
11
|
(HPO:0002944)
|
Thoracolumbar scoliosis |
|
|
|
|
13 / 7739
|
|
12
|
(HPO:0002983)
|
Micromelia |
|
|
|
|
130 / 7739
|
|
13
|
(HPO:0003016)
|
Metaphyseal widening |
|
|
|
|
41 / 7739
|
|
14
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
|
15
|
(HPO:0003037)
|
Enlarged joints |
|
|
|
|
4 / 7739
|
|
16
|
(HPO:0003411)
|
Proximal femoral metaphyseal irregularity |
|
|
|
|
7 / 7739
|
|
17
|
(HPO:0005871)
|
Metaphyseal chondrodysplasia |
|
|
|
|
10 / 7739
|
|
18
|
(HPO:0006094)
|
Finger joint hypermobility |
|
|
|
|
2 / 7739
|
|
19
|
(HPO:0008828)
|
Delayed proximal femoral epiphyseal ossification |
|
|
|
|
2 / 7739
|
|
20
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
|
21
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
22
|
(HPO:0009826)
|
Limb undergrowth |
|
|
|
|
8 / 7739
|
|
23
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
24
|
(HPO:0010230)
|
Cone-shaped epiphyses of the phalanges of the hand |
|
|
|
|
34 / 7739
|
|
25
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
|
26
|
(HPO:0100255)
|
Metaphyseal dysplasia |
|
|
|
|
26 / 7739
|
|
27
|
(OMIM)
|
Narrow, beaked nose |
|
|
|
|
2 / 7739
|
|
28
|
(OMIM)
|
Tracheobronchial malacia |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Shallow, narrow chest |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Progressive scoliosis |
|
|
|
|
6 / 7739
|
|
31
|
(OMIM)
|
Short limbs |
|
|
|
|
17 / 7739
|
|
32
|
(OMIM)
|
Short, broad tibiae and fibulae |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Irregular, widened metaphyses |
|
|
|
|
2 / 7739
|
|
34
|
(HPO:0010579)
|
Cone-shaped epiphysis |
|
|
|
|
54 / 7739
|
|
35
|
(OMIM)
|
Wrinkled skin over fingers |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Short, broad nails |
|
|
|
|
2 / 7739
|
|
37
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
38
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|