|
1
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0004378)
|
Abnormality of the anus |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
|
3
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Occasional [Orphanet]
|
|
|
|
281 / 7739
|
|
4
|
(HPO:0000271)
|
Abnormality of the face |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
5
|
(HPO:0200042)
|
Skin ulcer |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
6
|
(HPO:0001595)
|
Abnormality of the hair |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
7
|
(HPO:0000940)
|
Abnormal diaphysis morphology |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
8
|
(HPO:0000169)
|
Gingival fibromatosis |
|
|
|
|
14 / 7739
|
|
9
|
(HPO:0000212)
|
Gingival overgrowth |
|
|
|
|
43 / 7739
|
|
10
|
(HPO:0002797)
|
Osteolysis |
Occasional [Orphanet]
|
|
|
|
68 / 7739
|
|
11
|
(HPO:0003394)
|
Muscle cramps |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
|
12
|
(HPO:0000929)
|
Abnormality of the skull |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|
|
13
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
14
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
15
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
16
|
(HPO:0005876)
|
Progressive flexion contractures |
|
|
|
|
4 / 7739
|
|
17
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
18
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
19
|
(HPO:0002028)
|
Chronic diarrhea |
|
|
|
|
51 / 7739
|
|
20
|
(OMIM)
|
Painful, fleshy papules or nodules (hands, scalp, ears, perinasal area) |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Subcutaneous tumors, recurring |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Hyaline deposition in dermis |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Proliferation of spindle cells |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
25
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
26
|
(HPO:0030350)
|
Erythematous papule |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
27
|
(HPO:0000168)
|
Abnormality of the gingiva |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
|
28
|
(HPO:0001031)
|
Subcutaneous lipoma |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
29
|
(HPO:0001522)
|
Death in infancy |
Frequent [Orphanet]
|
|
|
|
275 / 7739
|
|
30
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
31
|
(HPO:0001482)
|
Subcutaneous nodule |
|
|
|
|
17 / 7739
|
|
32
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
33
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|