Symptom Information: Sort according to HPO 

1
 (HPO:0004331) Decreased skull ossification Frequent [Orphanet] 31 / 7739
2
 (HPO:0011800) Midface retrusion Frequent [Orphanet] 221 / 7739
3
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
4
 (HPO:0001004) Lymphedema Very frequent [Orphanet] 62 / 7739
5
 (HPO:0000347) Micrognathia 426 / 7739
6
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
7
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
8
 (HPO:0009803) Short phalanx of finger 79 / 7739
9
 (HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
10
 (HPO:0001877) Abnormality of erythrocytes Very frequent [Orphanet] 18 / 7739
11
 (HPO:0001362) Calvarial skull defect Frequent [Orphanet] 22 / 7739
12
 (HPO:0000256) Macrocephaly 298 / 7739
13
 (HPO:0000316) Hypertelorism 644 / 7739
14
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
15
 (HPO:0000348) High forehead 14684697 IBIS 157 / 7739
16
 (HPO:0000369) Low-set ears 18382993 IBIS 372 / 7739
17
 (HPO:0000476) Cystic hygroma 22 / 7739
18
 (HPO:0000692) Misalignment of teeth 3377005 IBIS 18 / 7739
19
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
20
 (HPO:0000773) Short ribs 70 / 7739
21
 (HPO:0000782) Abnormality of the scapula 3 / 7739
22
 (HPO:0000878) 11 pairs of ribs 19 / 7739
23
 (HPO:0000890) Long clavicles 13 / 7739
24
 (HPO:0000941) Short diaphyses 3 / 7739
25
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
26
 (HPO:0001169) Broad palm 43 / 7739
27
 (HPO:0001367) Abnormal joint morphology 12618959 IBIS 53 / 7739
28
 (HPO:0001433) Hepatosplenomegaly 11113916 IBIS 78 / 7739
29
 (HPO:0001539) Omphalocele 11113916 IBIS 102 / 7739
30
 (HPO:0001552) Barrel-shaped chest 31 / 7739
31
 (HPO:0001561) Polyhydramnios 191 / 7739
32
 (HPO:0001640) Cardiomegaly 11113916 IBIS 81 / 7739
33
 (HPO:0001790) Nonimmune hydrops fetalis 15 / 7739
34
 (HPO:0001802) Absent toenail 11113916 IBIS 6 / 7739
35
 (HPO:0001804) Hypoplastic fingernail 11113916 IBIS 62 / 7739
36
 (HPO:0001830) Postaxial foot polydactyly 18382993 IBIS 37 / 7739
37
 (HPO:0001852) Sandal gap 11113916 IBIS 63 / 7739
38
 (HPO:0001978) Extramedullary hematopoiesis 6 / 7739
39
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
40
 (HPO:0002101) Abnormal lung lobation 11113916 IBIS 33 / 7739
41
 (HPO:0002202) Pleural effusion 3377005 IBIS 22 / 7739
42
 (HPO:0002240) Hepatomegaly 467 / 7739
43
 (HPO:0002566) Intestinal malrotation 11113916 IBIS 89 / 7739
44
 (HPO:0002694) Sclerosis of skull base 10 / 7739
45
 (HPO:0002787) Tracheal calcification 3 / 7739
46
 (HPO:0002983) Micromelia 130 / 7739
47
 (HPO:0003015) Flared metaphysis 3377005 IBIS 44 / 7739
48
 (HPO:0003021) Metaphyseal cupping 12210303 IBIS 16 / 7739
49
 (HPO:0003107) Abnormality of cholesterol metabolism 4 / 7739
50
 (HPO:0003440) Horizontal sacrum 12210303 IBIS 5 / 7739
51
 (HPO:0004510) Pancreatic islet-cell hyperplasia 3377005 IBIS 9 / 7739
52
 (HPO:0004598) Supernumerary vertebral ossification centers 2 / 7739
53
 (HPO:0004599) Absent or minimally ossified vertebral bodies 3377005 IBIS 18 / 7739
54
 (HPO:0005019) Diaphyseal thickening 8213919 IBIS 4 / 7739
55
 (HPO:0005099) Severe hydrops fetalis 2 / 7739
56
 (HPO:0005280) Depressed nasal bridge 381 / 7739
57
 (HPO:0005528) Bone marrow hypocellularity 31 / 7739
58
 (HPO:0005716) Lethal skeletal dysplasia 14684697 IBIS 6 / 7739
59
 (HPO:0005855) Multiple prenatal fractures 10 / 7739
60
 (HPO:0006487) Bowing of the long bones 95 / 7739
61
 (HPO:0006559) Hepatic calcification 18382993 IBIS 2 / 7739
62
 (HPO:0006619) Anterior rib punctate calcifications 1 / 7739
63
 (HPO:0006637) Sternal punctate calcifications 1 / 7739
64
 (HPO:0008364) Abnormality of the calcaneus 12210303 IBIS 1 / 7739
65
 (HPO:0008420) Punctate vertebral calcifications 18382993 IBIS 2 / 7739
66
 (HPO:0008479) Hypoplastic vertebral bodies 3377005 IBIS 12 / 7739
67
 (HPO:0008516) Abnormality of the vertebral spinous processes 1 / 7739
68
 (HPO:0008754) Laryngeal calcification 2 / 7739
69
 (HPO:0008873) Disproportionate short-limb short stature 39 / 7739
70
 (HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
71
 (HPO:0009106) Abnormal pelvis bone ossification 1 / 7739
72
 (HPO:0009107) Abnormal ossification involving the femoral head and neck 1 / 7739
73
 (HPO:0009487) Ulnar deviation of the hand 12210303 IBIS 5 / 7739
74
 (HPO:0010655) Epiphyseal stippling 32 / 7739
75
 (HPO:0010659) Patchy variation in bone mineral density 1 / 7739
76
 (HPO:0010675) Abnormal foot bone ossification 3 / 7739
77
 (HPO:0100603) Toxemia of pregnancy Frequent [Orphanet] 7 / 7739
78
 (OMIM) 11 ribs 2 / 7739
79
 (OMIM) Platyspondyly with multiple extra ossification centers 1 / 7739
80
 (OMIM) Iliac apophysis, pubis and ischial punctate calcifications 1 / 7739
81
 (OMIM) Moth-eaten (fragmented) long bones 1 / 7739
82
 (HPO:0010442) Polydactyly 69 / 7739
83
 (OMIM) Elevated cholesta-8,14-dien-3-beta-ol 1 / 7739
84
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
85
 (HPO:0011849) Abnormal bone ossification Very frequent [Orphanet] 35 / 7739
86
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
87
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
88
 (HPO:0000272) Malar flattening 277 / 7739
89
 (HPO:0003027) Mesomelia 58 / 7739
90
 (HPO:0003811) Neonatal death 44 / 7739
91
 (HPO:0003826) Stillbirth 40 / 7739