|
1
|
(HPO:0002684)
|
Thickened calvaria |
|
|
|
|
32 / 7739
|
|
2
|
(HPO:0004437)
|
Cranial hyperostosis |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
3
|
(HPO:0100670)
|
Rough bone trabeculation |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
4
|
(HPO:0002149)
|
Hyperuricemia |
Very frequent [Orphanet]
|
|
|
|
37 / 7739
|
|
5
|
(HPO:0000768)
|
Pectus carinatum |
Frequent [Orphanet]
|
|
|
|
136 / 7739
|
|
6
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
7
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Very frequent [Orphanet]
|
|
|
|
110 / 7739
|
|
8
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
9
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
10
|
(HPO:0000822)
|
Hypertension |
Frequent [Orphanet]
|
|
|
|
224 / 7739
|
|
11
|
(HPO:0006487)
|
Bowing of the long bones |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
12
|
(HPO:0000995)
|
Melanocytic nevus |
Occasional [Orphanet]
|
|
|
|
63 / 7739
|
|
13
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
14
|
(HPO:0006660)
|
Aplastic clavicles |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
15
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
16
|
(HPO:0000510)
|
Rod-cone dystrophy |
Frequent [Orphanet]
|
|
|
|
266 / 7739
|
|
17
|
(HPO:0000546)
|
Retinal degeneration |
Occasional [HPO:probinson]
|
|
|
|
61 / 7739
|
|
18
|
(HPO:0001102)
|
Angioid streaks of the retina |
|
|
|
|
11 / 7739
|
|
19
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
20
|
(HPO:0002905)
|
Hyperphosphatemia |
|
|
|
|
18 / 7739
|
|
21
|
(HPO:0003080)
|
Hydroxyprolinuria |
|
|
|
|
7 / 7739
|
|
22
|
(HPO:0003148)
|
Elevated serum acid phosphatase |
|
|
|
|
7 / 7739
|
|
23
|
(HPO:0003260)
|
Hydroxyprolinemia |
|
|
|
|
2 / 7739
|
|
24
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
25
|
(HPO:0006480)
|
Premature loss of teeth |
|
|
|
|
23 / 7739
|
|
26
|
(OMIM)
|
Expanded long bones |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Increased bone formation and destruction |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Progressive skeletal deformity |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Mild involvement of cranial bones |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Islands of increased skull bone density |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Retinal degeneration in some individuals |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Alkaline phosphatase elevated |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Leucine aminopeptidase elevated |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
35
|
(HPO:0001031)
|
Subcutaneous lipoma |
Occasional [Orphanet]
|
|
|
|
112 / 7739
|
|
36
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|