1
|
(HPO:0000924)
|
Abnormality of the skeletal system |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
2
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
3
|
(HPO:0002823)
|
Abnormality of the femur |
Frequent [Orphanet]
|
|
|
|
61 / 7739
|
4
|
(HPO:0006660)
|
Aplastic clavicles |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
5
|
(HPO:0002992)
|
Abnormality of the tibia |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
6
|
(HPO:0002991)
|
Abnormality of the fibula |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
7
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
8
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
9
|
(HPO:0000274)
|
Small face |
|
|
|
|
18 / 7739
|
10
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
11
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
12
|
(HPO:0000910)
|
Wide-cupped costochondral junctions |
|
|
|
|
3 / 7739
|
13
|
(HPO:0004565)
|
Severe platyspondyly |
|
|
|
|
13 / 7739
|
14
|
(HPO:0004763)
|
Paroxysmal supraventricular tachycardia |
|
|
|
|
10 / 7739
|
15
|
(HPO:0000946)
|
Hypoplastic ilia |
|
|
|
|
21 / 7739
|
16
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
17
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
18
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
19
|
(HPO:0002677)
|
Small foramen magnum |
|
|
|
|
4 / 7739
|
20
|
(HPO:0003185)
|
Short sacroiliac notch |
|
|
|
|
7 / 7739
|
21
|
(HPO:0006584)
|
Small abnormally formed scapulae |
|
|
|
|
4 / 7739
|
22
|
(HPO:0008909)
|
Lethal short-limbed short stature |
|
|
|
|
4 / 7739
|
23
|
(OMIM)
|
Severe growth deficiency in survivors |
|
|
|
|
2 / 7739
|
24
|
(OMIM)
|
Cloverleaf skull rarely |
|
|
|
|
2 / 7739
|
25
|
(OMIM)
|
Marked shortness and bowing of long bones |
|
|
|
|
2 / 7739
|
26
|
(OMIM)
|
'French telephone receiver femurs' |
|
|
|
|
2 / 7739
|
27
|
(OMIM)
|
Temporal lobe heterotopias |
|
|
|
|
2 / 7739
|
28
|
(OMIM)
|
Profound mental retardation and hypotonia in survivors |
|
|
|
|
2 / 7739
|
29
|
(OMIM)
|
Prenatal diagnosis by ultrasound |
|
|
|
|
5 / 7739
|
30
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|