|
1
|
(HPO:0000239)
|
Large fontanelles |
|
|
|
|
135 / 7739
|
|
2
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
3
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
4
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
|
5
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
|
6
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
7
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
8
|
(HPO:0001591)
|
Bell-shaped thorax |
|
|
|
|
35 / 7739
|
|
9
|
(HPO:0002002)
|
Deep philtrum |
|
|
|
|
42 / 7739
|
|
10
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
11
|
(HPO:0002983)
|
Micromelia |
|
|
|
|
130 / 7739
|
|
12
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
|
13
|
(HPO:0003175)
|
Hypoplastic ischia |
|
|
|
|
12 / 7739
|
|
14
|
(HPO:0003177)
|
Squared iliac bones |
|
|
|
|
7 / 7739
|
|
15
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
16
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
17
|
(HPO:0004565)
|
Severe platyspondyly |
|
|
|
|
13 / 7739
|
|
18
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
19
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
20
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
21
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
22
|
(OMIM)
|
Pre- and postnatal short stature |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Wide nostrils |
|
|
|
|
2 / 7739
|
|
24
|
(OMIM)
|
Increased nasal width |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Cupped end ribs |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Prominent abdomen |
|
|
|
|
7 / 7739
|
|
27
|
(OMIM)
|
Horizontal acetabula with medial and lateral spurs |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Short limbs |
|
|
|
|
17 / 7739
|
|
29
|
(OMIM)
|
Slight widening of the distal femoral metaphyses |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Absence of epiphyseal ossification of the knees |
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
32
|
(HPO:0000311)
|
Round face |
|
|
|
|
104 / 7739
|
|
33
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
34
|
(HPO:0001640)
|
Cardiomegaly |
|
|
|
|
81 / 7739
|
|
35
|
(HPO:0002092)
|
Pulmonary hypertension |
|
|
|
|
109 / 7739
|
|
36
|
(HPO:0002645)
|
Wormian bones |
|
|
|
|
65 / 7739
|
|
37
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
38
|
(HPO:0002789)
|
Tachypnea |
|
|
|
|
48 / 7739
|
|
39
|
(HPO:0003021)
|
Metaphyseal cupping |
|
|
|
|
16 / 7739
|
|
40
|
(HPO:0008786)
|
Iliac crest serration |
|
|
|
|
4 / 7739
|