Symptom Information: Sort according to HPO 

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