Symptom Information: Sort according to HPO 

1
(HPO:0004437) Cranial hyperostosis Very frequent [Orphanet] 55 / 7739
2
(HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
3
(HPO:0011001) Increased bone mineral density Frequent [Orphanet] 78 / 7739
4
(HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
5
(HPO:0000308) Microretrognathia Frequent [Orphanet] 78 / 7739
6
(HPO:0000347) Micrognathia 426 / 7739
7
(HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
8
(HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
9
(HPO:0003510) Severe short stature 90 / 7739
10
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
11
(HPO:0000336) Prominent supraorbital ridges Very frequent [Orphanet] 45 / 7739
12
(HPO:0000829) Hypoparathyroidism Frequent [Orphanet] 22 / 7739
13
(HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
14
(HPO:0000520) Proptosis Very frequent [Orphanet] 192 / 7739
15
(HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
16
(HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
17
(HPO:0003072) Hypercalcemia Frequent [Orphanet] 36 / 7739
18
(HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
19
(HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
20
(HPO:0100530) Abnormality of calcium-phosphate metabolism Frequent [Orphanet] 12 / 7739
21
(HPO:0000121) Nephrocalcinosis 57 / 7739
22
(HPO:0000248) Brachycephaly 222 / 7739
23
(HPO:0000452) Choanal stenosis 23 / 7739
24
(HPO:0000453) Choanal atresia 76 / 7739
25
(HPO:0000692) Misalignment of teeth 18 / 7739
26
(HPO:0000773) Short ribs 70 / 7739
27
(HPO:0000938) Osteopenia 138 / 7739
28
(HPO:0002148) Hypophosphatemia 43 / 7739
29
(HPO:0002150) Hypercalciuria 45 / 7739
30
(HPO:0002515) Waddling gait 56 / 7739
31
(HPO:0002737) Thick skull base 3 / 7739
32
(HPO:0002756) Pathologic fracture 30 / 7739
33
(HPO:0003021) Metaphyseal cupping 16 / 7739
34
(HPO:0003026) Short long bone 51 / 7739
35
(HPO:0003109) Hyperphosphaturia 18 / 7739
36
(HPO:0003155) Elevated alkaline phosphatase 52 / 7739
37
(HPO:0003273) Hip contracture 30 / 7739
38
(HPO:0004676) Prominent supraorbital arches in adult 1 / 7739
39
(HPO:0005871) Metaphyseal chondrodysplasia 10 / 7739
40
(HPO:0006380) Knee flexion contracture 56 / 7739
41
(HPO:0006487) Bowing of the long bones 95 / 7739
42
(HPO:0100759) Clubbing of fingers 40 / 7739
43
(OMIM) Severe short stature, postnatal onset 1 / 7739
44
(OMIM) Average adult height 125cm 1 / 7739
45
(OMIM) Mild frontonasal hyperplasia in adult 1 / 7739
46
(HPO:0000365) Hearing impairment 539 / 7739
47
(OMIM) Mandibular cyst 1 / 7739
48
(OMIM) Bowing of long bones, especially lower limb 1 / 7739
49
(OMIM) Markedly expanded cup-shaped metaphyses, infancy 1 / 7739
50
(OMIM) Short, mildly broad diaphyses 1 / 7739
51
(MedDRA:10058668) Clinodactyly 91 / 7739
52
(OMIM) Short, clubbed fingers 1 / 7739
53
(OMIM) Increased urinary excretion of cAMP 1 / 7739
54
(OMIM) Elevated 1,25(OH)2 D3 1 / 7739
55
(OMIM) Parathyroid hormone (PTH) absent to low 1 / 7739
56
(OMIM) Parathyroid hormone-related peptide (PTHrP) absent to low 1 / 7739
57
(HPO:0000940) Abnormal diaphysis morphology Frequent [Orphanet] 41 / 7739
58
(HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
59
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739