Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
2
 (HPO:0002676) Cloverleaf skull Occasional [Orphanet] 14 / 7739
3
 (HPO:0001582) Redundant skin Very frequent [Orphanet] 51 / 7739
4
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
5
 (HPO:0100781) Abnormality of the sacroiliac joint Very frequent [Orphanet] 6 / 7739
6
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
7
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
8
 (HPO:0010880) Increased nuchal translucency Frequent [Orphanet] 13 / 7739
9
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
10
 (HPO:0000956) Acanthosis nigricans Occasional [Orphanet] 54 / 7739
11
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
12
 (HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
13
 (HPO:0004565) Severe platyspondyly 13 / 7739
14
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
15
 (HPO:0000773) Short ribs 70 / 7739
16
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
17
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
18
 (HPO:0000274) Small face Very frequent [Orphanet] 18 / 7739
19
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
20
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
21
 (HPO:0004060) Trident hand Very frequent [Orphanet] 13 / 7739
22
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
23
 (HPO:0002823) Abnormality of the femur Very frequent [Orphanet] 61 / 7739
24
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
25
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
26
 (HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 72 / 7739
27
 (HPO:0100678) Premature skin wrinkling Frequent [Orphanet] 25 / 7739
28
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
29
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
30
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
31
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
32
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
33
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
34
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
35
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
36
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
37
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
38
 (HPO:0000077) Abnormality of the kidney Occasional [Orphanet] 73 / 7739
39
 (HPO:0000910) Wide-cupped costochondral junctions 3 / 7739
40
 (HPO:0004763) Paroxysmal supraventricular tachycardia 10 / 7739
41
 (HPO:0000946) Hypoplastic ilia 21 / 7739
42
 (HPO:0001558) Decreased fetal movement 74 / 7739
43
 (HPO:0002187) Intellectual disability, profound 44 / 7739
44
 (HPO:0002282) Heterotopia 21 / 7739
45
 (HPO:0002677) Small foramen magnum 4 / 7739
46
 (HPO:0003026) Short long bone 51 / 7739
47
 (HPO:0003185) Short sacroiliac notch 7 / 7739
48
 (HPO:0006584) Small abnormally formed scapulae 4 / 7739
49
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Frequent [Orphanet] 79 / 7739
50
 (HPO:0008909) Lethal short-limbed short stature 4 / 7739
51
 (OMIM) Severe growth deficiency in survivors 2 / 7739
52
 (OMIM) Cloverleaf skull rarely 2 / 7739
53
 (OMIM) Marked shortness and bowing of long bones 2 / 7739
54
 (OMIM) 'French telephone receiver femurs' 2 / 7739
55
 (OMIM) Temporal lobe heterotopias 2 / 7739
56
 (OMIM) Profound mental retardation and hypotonia in survivors 2 / 7739
57
 (OMIM) Prenatal diagnosis by ultrasound 5 / 7739
58
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
59
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
60
 (HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
61
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
62
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
63
 (HPO:0001263) Global developmental delay 853 / 7739
64
 (HPO:0003015) Flared metaphysis 44 / 7739
65
 (HPO:0003025) Metaphyseal irregularity 42 / 7739
66
 (HPO:0003510) Severe short stature 90 / 7739
67
 (HPO:0003811) Neonatal death 44 / 7739