Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
2
 (HPO:0001182) Tapered finger Very frequent [Orphanet] 93 / 7739
3
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
4
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
5
 (HPO:0001324) Muscle weakness 859 / 7739
6
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
7
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 244 / 7739
8
 (HPO:0000592) Blue sclerae Occasional [Orphanet] 85 / 7739
9
 (HPO:0000774) Narrow chest Occasional [Orphanet] 167 / 7739
10
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
11
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
12
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
13
 (HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
14
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
15
 (HPO:0004599) Absent or minimally ossified vertebral bodies Very frequent [Orphanet] 18 / 7739
16
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
17
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
18
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
19
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
20
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
21
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
22
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
23
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
24
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
25
 (HPO:0000117) Renal phosphate wasting rare [HPO:skoehler] 14 / 7739
26
 (HPO:0000316) Hypertelorism 644 / 7739
27
 (HPO:0000343) Long philtrum 262 / 7739
28
 (HPO:0000463) Anteverted nares 305 / 7739
29
 (HPO:0000470) Short neck 345 / 7739
30
 (HPO:0000907) Anterior rib cupping 12 / 7739
31
 (HPO:0000922) Posterior rib cupping 6 / 7739
32
 (HPO:0000969) Edema 117 / 7739
33
 (HPO:0001538) Protuberant abdomen 36 / 7739
34
 (HPO:0001561) Polyhydramnios 191 / 7739
35
 (HPO:0001591) Bell-shaped thorax 35 / 7739
36
 (HPO:0001773) Short foot 86 / 7739
37
 (HPO:0002148) Hypophosphatemia rare [HPO:skoehler] 43 / 7739
38
 (HPO:0003021) Metaphyseal cupping 16 / 7739
39
 (HPO:0003026) Short long bone 51 / 7739
40
 (HPO:0003173) Hypoplastic pubic bone 8 / 7739
41
 (HPO:0003175) Hypoplastic ischia 12 / 7739
42
 (HPO:0003177) Squared iliac bones 7 / 7739
43
 (HPO:0003180) Flat acetabular roof 25 / 7739
44
 (HPO:0004565) Severe platyspondyly 13 / 7739
45
 (HPO:0008479) Hypoplastic vertebral bodies 12 / 7739
46
 (HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
47
 (OMIM) Dwarfism, identifiable at birth 2 / 7739
48
 (OMIM) Nuchal edema 1 / 7739
49
 (OMIM) Anterior and posterior rib flaring 1 / 7739
50
 (HPO:0000887) Cupped ribs 9 / 7739
51
 (OMIM) Prominent abdomen 7 / 7739
52
 (OMIM) Scoliosis, severe 3 / 7739
53
 (OMIM) Medial and lateral spur 2 / 7739
54
 (OMIM) Rhizomelic shortening 12 / 7739
55
 (OMIM) Very short long bones 1 / 7739
56
 (OMIM) Marked delay in epiphyseal appearance 1 / 7739
57
 (OMIM) Very short tubular bones 1 / 7739
58
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
59
 (HPO:0010547) Muscle flaccidity 466 / 7739
60
 (HPO:0001172) Abnormality of the thumb Occasional [Orphanet] 103 / 7739
61
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
62
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
63
 (HPO:0008873) Disproportionate short-limb short stature 39 / 7739