|
1
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
2
|
(HPO:0011001)
|
Increased bone mineral density |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
3
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
4
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
5
|
(HPO:0001387)
|
Joint stiffness |
|
|
|
|
322 / 7739
|
|
6
|
(HPO:0100542)
|
Abnormal localization of kidney |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
7
|
(OMIM)
|
Osteopoikilosis ('spotted bones') typically located in epiphyses and metaphyses of long bones, wrist, foot, ankle, pelvis, and scapula |
|
|
|
|
2 / 7739
|
|
8
|
(OMIM)
|
Melorheostosis, typically affect diaphyses (less common) |
|
|
|
|
2 / 7739
|
|
9
|
(OMIM)
|
Subcutaneous nontender firm nodules |
|
|
|
|
2 / 7739
|
|
10
|
(OMIM)
|
Subcutaneous connective tissue nevi |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
Elastin-rich connective tissue nevi (elastoma) |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Collagen-rich connective tissue nevi (dermatofibrosis lenticularis disseminata) |
|
|
|
|
2 / 7739
|
|
13
|
(HPO:0001031)
|
Subcutaneous lipoma |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|