1
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
2
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
3
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
4
|
(HPO:0000311)
|
Round face |
|
|
|
|
104 / 7739
|
5
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
6
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
7
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
8
|
(HPO:0000586)
|
Shallow orbits |
|
|
|
|
23 / 7739
|
9
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
10
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
11
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
12
|
(HPO:0001083)
|
Ectopia lentis |
|
|
|
|
45 / 7739
|
13
|
(HPO:0001181)
|
Adducted thumb |
|
|
|
|
31 / 7739
|
14
|
(HPO:0001376)
|
Limitation of joint mobility |
|
|
|
|
27 / 7739
|
15
|
(HPO:0002084)
|
Encephalocele |
|
|
|
|
70 / 7739
|
16
|
(HPO:0011815)
|
Cephalocele |
|
|
|
|
5 / 7739
|
17
|
(HPO:0002983)
|
Micromelia |
|
|
|
|
130 / 7739
|
18
|
(HPO:0003016)
|
Metaphyseal widening |
|
|
|
|
41 / 7739
|
19
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
20
|
(HPO:0003375)
|
Narrow greater sacrosciatic notches |
|
|
|
|
13 / 7739
|
21
|
(HPO:0004233)
|
Advanced ossification of carpal bones |
|
|
|
|
14 / 7739
|
22
|
(HPO:0005622)
|
Broad long bones |
|
|
|
|
8 / 7739
|
23
|
(HPO:0006487)
|
Bowing of the long bones |
|
|
|
|
95 / 7739
|
24
|
(HPO:0008110)
|
Equinovarus deformity |
|
|
|
|
1 / 7739
|
25
|
(HPO:0008921)
|
Neonatal short-limb short stature |
|
|
|
|
12 / 7739
|
26
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
27
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
28
|
(HPO:0012368)
|
Flat face |
|
|
|
|
106 / 7739
|
29
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
30
|
(OMIM)
|
Short, flared ribs |
|
|
|
|
1 / 7739
|
31
|
(OMIM)
|
Variable vertebral body size |
|
|
|
|
1 / 7739
|
32
|
(OMIM)
|
Prominent coronal clefting |
|
|
|
|
1 / 7739
|
33
|
(OMIM)
|
Sagittal clefting |
|
|
|
|
1 / 7739
|
34
|
(OMIM)
|
Wide flared ilia |
|
|
|
|
1 / 7739
|
35
|
(OMIM)
|
Short, broad, bowed long bones |
|
|
|
|
1 / 7739
|
36
|
(OMIM)
|
Microcamptomelia (camptomicromelia) |
|
|
|
|
1 / 7739
|
37
|
(OMIM)
|
Dumbbell femurs |
|
|
|
|
1 / 7739
|
38
|
(OMIM)
|
Short, broad tubular bones |
|
|
|
|
2 / 7739
|
39
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
40
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|