|
1
|
(HPO:0000012)
|
Urinary urgency |
|
|
|
|
35 / 7739
|
|
2
|
(HPO:0000020)
|
Urinary incontinence |
|
|
|
|
75 / 7739
|
|
3
|
(HPO:0000297)
|
Facial hypotonia |
|
|
|
|
8 / 7739
|
|
4
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
5
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
6
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
7
|
(HPO:0000711)
|
Restlessness |
|
|
|
|
18 / 7739
|
|
8
|
(HPO:0000720)
|
Mood swings |
|
|
|
|
6 / 7739
|
|
9
|
(HPO:0000744)
|
Low frustration tolerance |
|
|
|
|
3 / 7739
|
|
10
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
11
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
12
|
(HPO:0002061)
|
Lower limb spasticity |
|
|
|
|
56 / 7739
|
|
13
|
(HPO:0002362)
|
Shuffling gait |
|
|
|
|
13 / 7739
|
|
14
|
(HPO:0002427)
|
Motor aphasia |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0002445)
|
Tetraplegia |
|
|
|
|
26 / 7739
|
|
16
|
(HPO:0002839)
|
Urinary bladder sphincter dysfunction |
|
|
|
|
34 / 7739
|
|
17
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
18
|
(HPO:0007210)
|
Lower limb amyotrophy |
|
|
|
|
7 / 7739
|
|
19
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
|
|
61 / 7739
|
|
20
|
(HPO:0009882)
|
Short distal phalanx of finger |
|
|
|
|
125 / 7739
|
|
21
|
(OMIM)
|
Reduced vision |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Bowel dysfunction |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Short, thick distal phalanges |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Lower limb hypotrophy |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
|
26
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|