|
1
|
(HPO:0011001)
|
Increased bone mineral density |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
2
|
(HPO:0011002)
|
Osteopetrosis |
|
|
|
|
19 / 7739
|
|
3
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
4
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
5
|
(HPO:0009882)
|
Short distal phalanx of finger |
Very frequent [Orphanet]
|
|
|
|
125 / 7739
|
|
6
|
(HPO:0002901)
|
Hypocalcemia |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
|
7
|
(HPO:0001903)
|
Anemia |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
8
|
(HPO:0002857)
|
Genu valgum |
Frequent [Orphanet]
|
|
|
|
144 / 7739
|
|
9
|
(HPO:0002758)
|
Osteoarthritis |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
10
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
|
|
278 / 7739
|
|
11
|
(HPO:0100769)
|
Synovitis |
Very frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
12
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
13
|
(HPO:0001881)
|
Abnormality of leukocytes |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
|
14
|
(HPO:0000670)
|
Carious teeth |
Occasional [Orphanet]
|
|
|
|
145 / 7739
|
|
15
|
(HPO:0002653)
|
Bone pain |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
16
|
(HPO:0002754)
|
Osteomyelitis |
Very frequent [Orphanet]
|
|
|
|
37 / 7739
|
|
17
|
(HPO:0006824)
|
Cranial nerve paralysis |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
18
|
(HPO:0010628)
|
Facial palsy |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
19
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
|
20
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Very frequent [Orphanet]
|
|
|
|
110 / 7739
|
|
21
|
(HPO:0002757)
|
Recurrent fractures |
|
|
|
|
47 / 7739
|
|
22
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
23
|
(HPO:0010885)
|
Aseptic necrosis |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
24
|
(HPO:0001373)
|
Joint dislocation |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
25
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
26
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
27
|
(HPO:0001877)
|
Abnormality of erythrocytes |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
|
28
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
29
|
(HPO:0002644)
|
Abnormality of pelvic girdle bone morphology |
|
|
|
|
31 / 7739
|
|
30
|
(HPO:0003084)
|
Fractures of the long bones |
|
|
|
|
5 / 7739
|
|
31
|
(HPO:0003148)
|
Elevated serum acid phosphatase |
|
|
|
|
7 / 7739
|
|
32
|
(HPO:0005106)
|
Abnormality of the vertebral endplates |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0005528)
|
Bone marrow hypocellularity |
rare [HPO:skoehler]
|
|
|
|
31 / 7739
|
|
34
|
(HPO:0005789)
|
Generalized osteosclerosis |
|
|
|
|
10 / 7739
|
|
35
|
(HPO:0007209)
|
Facial paralysis |
|
|
|
|
8 / 7739
|
|
36
|
(HPO:0007626)
|
Mandibular osteomyelitis |
|
|
|
|
2 / 7739
|
|
37
|
(HPO:0008843)
|
Hip osteoarthritis |
|
|
|
|
12 / 7739
|
|
38
|
(OMIM)
|
Vision loss, severe, beginning in childhood (12 of 62 patients) |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Pronounced skull base sclerosis |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
'Rugger-Jersey' spine (vertebral endplate thickening) |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Endobones (bone within bone) |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Facial palsy due to cranial nerve VII compression |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
|
44
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
45
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
46
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
47
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|