Symptom Information: Sort according to HPO 

1
 (HPO:0002676) Cloverleaf skull Frequent [Orphanet] 14 / 7739
2
 (HPO:0009882) Short distal phalanx of finger Frequent [Orphanet] 125 / 7739
3
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
4
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
5
 (HPO:0000581) Blepharophimosis Occasional [Orphanet] 197 / 7739
6
 (HPO:0000431) Wide nasal bridge Frequent [Orphanet] 290 / 7739
7
 (HPO:0000568) Microphthalmia 183 / 7739
8
 (HPO:0001838) Rocker bottom foot Occasional [Orphanet] 85 / 7739
9
 (HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
10
 (HPO:0010804) Tented upper lip vermilion Very frequent [Orphanet] 47 / 7739
11
 (HPO:0000582) Upslanted palpebral fissure Occasional [Orphanet] 185 / 7739
12
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
13
 (HPO:0000239) Large fontanelles Occasional [Orphanet] 135 / 7739
14
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
15
 (HPO:0000482) Microcornea Occasional [Orphanet] 102 / 7739
16
 (HPO:0004331) Decreased skull ossification Very frequent [Orphanet] 31 / 7739
17
 (HPO:0011800) Midface retrusion Frequent [Orphanet] 221 / 7739
18
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
19
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
20
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
21
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
22
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
23
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
24
 (HPO:0006660) Aplastic clavicles Frequent [Orphanet] 70 / 7739
25
 (HPO:0000054) Micropenis Frequent [Orphanet] 257 / 7739
26
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
27
 (HPO:0000601) Hypotelorism Occasional [Orphanet] 83 / 7739
28
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
29
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
30
 (HPO:0001182) Tapered finger Frequent [Orphanet] 93 / 7739
31
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
32
 (HPO:0011220) Prominent forehead 137 / 7739
33
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
34
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
35
 (HPO:0000926) Platyspondyly Frequent [Orphanet] 150 / 7739
36
 (HPO:0000592) Blue sclerae Occasional [Orphanet] 85 / 7739
37
 (HPO:0001591) Bell-shaped thorax Frequent [Orphanet] 35 / 7739
38
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
39
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
40
 (HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 72 / 7739
41
 (HPO:0002659) Increased susceptibility to fractures Very frequent [Orphanet] 110 / 7739
42
 (HPO:0003100) Slender long bone Very frequent [Orphanet] 23684011 IBIS 45 / 7739
43
 (HPO:0001746) Asplenia rare [HPO:skoehler] 19 / 7739
44
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
45
 (HPO:0000322) Short philtrum Very frequent [Orphanet] 130 / 7739
46
 (HPO:0000944) Abnormality of the metaphyses Frequent [Orphanet] 141 / 7739
47
 (HPO:0001562) Oligohydramnios Occasional [Orphanet] 75 / 7739
48
 (HPO:0000238) Hydrocephalus 278 / 7739
49
 (HPO:0000526) Aniridia 12 / 7739
50
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
51
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
52
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
53
 (HPO:0001250) Seizures 1245 / 7739
54
 (HPO:0001263) Global developmental delay 853 / 7739
55
 (HPO:0001508) Failure to thrive 454 / 7739
56
 (HPO:0001541) Ascites 94 / 7739
57
 (HPO:0001743) Abnormality of the spleen Very frequent [Orphanet] 37 / 7739
58
 (HPO:0002901) Hypocalcemia 56 / 7739
59
 (HPO:0003015) Flared metaphysis 44 / 7739
60
 (HPO:0006270) Hypoplastic spleen 4 / 7739
61
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Frequent [Orphanet] 79 / 7739
62
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
63
 (HPO:0008678) Renal hypoplasia/aplasia Frequent [Orphanet] 127 / 7739
64
 (HPO:0009924) Aplasia/Hypoplasia involving the nose Occasional [Orphanet] 18 / 7739
65
 (HPO:0010296) Ankyloglossia 11 / 7739
66
 (HPO:0010515) Aplasia/Hypoplasia of the thymus Frequent [Orphanet] 17 / 7739
67
 (HPO:0011039) Abnormality of the helix Frequent [Orphanet] 33 / 7739
68
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Occasional [Orphanet] 117 / 7739
69
 (HPO:0001525) Severe failure to thrive 13 / 7739
70
 (OMIM) Thin ribs and clavicles 1 / 7739
71
 (OMIM) Bones dense but thin 1 / 7739
72
 (OMIM) Obliteration of medullary cavity seen on radiography 1 / 7739
73
 (OMIM) Cloverleaf-shaped skull 1 / 7739
74
 (OMIM) Hypoplastic cranial bones 1 / 7739
75
 (OMIM) Decreased mineralization of skull (in some patients) 1 / 7739
76
 (OMIM) Micromelic short limbs 1 / 7739
77
 (OMIM) Long bone fractures prenatally 1 / 7739
78
 (MedDRA:10072883) Brachydactyly 153 / 7739
79
 (HPO:0011849) Abnormal bone ossification Very frequent [Orphanet] 35 / 7739
80
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
81
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Frequent [Orphanet] 69 / 7739
82
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
83
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
84
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
85
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
86
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
87
 (HPO:0001156) Brachydactyly syndrome 180 / 7739