|
1
|
(HPO:0000274)
|
Small face |
|
|
|
|
18 / 7739
|
|
2
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
|
3
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
|
4
|
(HPO:0000910)
|
Wide-cupped costochondral junctions |
|
|
|
|
3 / 7739
|
|
5
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
6
|
(HPO:0004763)
|
Paroxysmal supraventricular tachycardia |
|
|
|
|
10 / 7739
|
|
7
|
(HPO:0000946)
|
Hypoplastic ilia |
|
|
|
|
21 / 7739
|
|
8
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
9
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
|
10
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
11
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
12
|
(HPO:0002676)
|
Cloverleaf skull |
|
|
|
|
14 / 7739
|
|
13
|
(HPO:0002677)
|
Small foramen magnum |
|
|
|
|
4 / 7739
|
|
14
|
(HPO:0003185)
|
Short sacroiliac notch |
|
|
|
|
7 / 7739
|
|
15
|
(HPO:0006584)
|
Small abnormally formed scapulae |
|
|
|
|
4 / 7739
|
|
16
|
(HPO:0008909)
|
Lethal short-limbed short stature |
|
|
|
|
4 / 7739
|
|
17
|
(OMIM)
|
Clover leaf head |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Severe cloverleaf skull (Kleeblattschaedel) |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Straight femurs |
|
|
|
|
1 / 7739
|
|
20
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
21
|
(OMIM)
|
Prenatal diagnosis by ultrasound |
|
|
|
|
5 / 7739
|
|
22
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
23
|
(HPO:0003015)
|
Flared metaphysis |
|
|
|
|
44 / 7739
|
|
24
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
|
25
|
(HPO:0003811)
|
Neonatal death |
|
|
|
|
44 / 7739
|