|
1
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
|
2
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
3
|
(HPO:0000307)
|
Pointed chin |
|
|
|
|
45 / 7739
|
|
4
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
|
5
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
|
6
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
7
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
8
|
(HPO:0001385)
|
Hip dysplasia |
|
|
|
|
242 / 7739
|
|
9
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
10
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
11
|
(HPO:0003100)
|
Slender long bone |
|
|
|
|
45 / 7739
|
|
12
|
(HPO:0003307)
|
Hyperlordosis |
|
|
|
|
122 / 7739
|
|
13
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
14
|
(HPO:0004570)
|
Increased vertebral height |
|
|
|
|
6 / 7739
|
|
15
|
(HPO:0010306)
|
Short thorax |
|
|
|
|
10 / 7739
|
|
16
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
17
|
(HPO:0004325)
|
Decreased body weight |
|
|
|
|
492 / 7739
|
|
18
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
19
|
(OMIM)
|
Fleshy tipped nose |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Fleshy lips |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Square shoulders |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Transverse chest groove |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Prominent heel |
|
|
|
|
5 / 7739
|
|
24
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|