|
1
|
(HPO:0003019)
|
Abnormality of the wrist |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
2
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
3
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
4
|
(HPO:0000112)
|
Nephropathy |
Frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
5
|
(HPO:0001561)
|
Polyhydramnios |
Occasional [Orphanet]
|
|
|
|
191 / 7739
|
|
6
|
(HPO:0003100)
|
Slender long bone |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
7
|
(HPO:0000506)
|
Telecanthus |
Occasional [Orphanet]
|
|
|
|
156 / 7739
|
|
8
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Occasional [Orphanet]
|
|
|
|
119 / 7739
|
|
9
|
(HPO:0000431)
|
Wide nasal bridge |
Occasional [Orphanet]
|
|
|
|
290 / 7739
|
|
10
|
(HPO:0100490)
|
Camptodactyly of finger |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
11
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
12
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
13
|
(HPO:0003457)
|
EMG abnormality |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
14
|
(HPO:0002714)
|
Downturned corners of mouth |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
|
15
|
(HPO:0000093)
|
Proteinuria |
Very frequent [Orphanet]
|
|
|
|
169 / 7739
|
|
16
|
(HPO:0000520)
|
Proptosis |
Very frequent [Orphanet]
|
|
|
|
192 / 7739
|
|
17
|
(HPO:0004326)
|
Cachexia |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
18
|
(HPO:0002797)
|
Osteolysis |
Very frequent [Orphanet]
|
|
|
|
68 / 7739
|
|
19
|
(HPO:0000325)
|
Triangular face |
Very frequent [Orphanet]
|
|
|
|
91 / 7739
|
|
20
|
(HPO:0000083)
|
Renal insufficiency |
|
|
|
|
232 / 7739
|
|
21
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
22
|
(HPO:0000822)
|
Hypertension |
|
|
|
|
224 / 7739
|
|
23
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
24
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
25
|
(HPO:0001193)
|
Ulnar deviation of the hand or of fingers of the hand |
|
|
|
|
17 / 7739
|
|
26
|
(HPO:0001225)
|
Wrist swelling |
|
|
|
|
2 / 7739
|
|
27
|
(HPO:0001473)
|
Metatarsal osteolysis |
|
|
|
|
2 / 7739
|
|
28
|
(HPO:0001495)
|
Carpal osteolysis |
|
|
|
|
3 / 7739
|
|
29
|
(HPO:0001504)
|
Metacarpal osteolysis |
|
|
|
|
3 / 7739
|
|
30
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
31
|
(HPO:0001785)
|
Ankle swelling |
|
|
|
|
3 / 7739
|
|
32
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|
|
33
|
(HPO:0006234)
|
Osteolysis involving tarsal bones |
|
|
|
|
3 / 7739
|
|
34
|
(OMIM)
|
Wrist arthralgia |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Ankle arthralgia |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
37
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|