|
1
|
(HPO:0000768)
|
Pectus carinatum |
rare [HPO:skoehler]
|
|
|
|
136 / 7739
|
|
2
|
(HPO:0000917)
|
Superior pectus carinatum |
|
|
|
|
11 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
5
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
6
|
(HPO:0001332)
|
Dystonia |
rare [HPO:skoehler]
|
|
|
|
197 / 7739
|
|
7
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
8
|
(HPO:0002169)
|
Clonus |
|
|
|
|
37 / 7739
|
|
9
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
10
|
(HPO:0000998)
|
Hypertrichosis |
|
|
|
|
52 / 7739
|
|
11
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
|
12
|
(HPO:0002230)
|
Generalized hirsutism |
|
|
|
|
32 / 7739
|
|
13
|
(HPO:0004554)
|
Generalized hypertrichosis |
|
|
|
|
30 / 7739
|
|
14
|
(OMIM)
|
Unsteady standing |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Cognitive impairment, mild to moderate |
|
|
|
|
2 / 7739
|
|
16
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
17
|
(OMIM)
|
Spasticity, upper and lower limbs |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Decreased vibration or position sense (in 3 patients) |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|