|
1
|
(HPO:0000518)
|
Cataract |
|
|
19007737
|
IBIS
|
454 / 7739
|
|
2
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
26297558
|
IBIS
|
97 / 7739
|
|
3
|
(HPO:0001288)
|
Gait disturbance |
|
|
9973297
|
IBIS
|
318 / 7739
|
|
4
|
(HPO:0001328)
|
Specific learning disability |
|
|
8779323
|
IBIS
|
114 / 7739
|
|
5
|
(HPO:0001347)
|
Hyperreflexia |
|
|
8779323
|
IBIS
|
363 / 7739
|
|
6
|
(HPO:0001498)
|
Carpal bone hypoplasia |
|
|
8779323
|
IBIS
|
17 / 7739
|
|
7
|
(HPO:0001761)
|
Pes cavus |
|
|
9973297
|
IBIS
|
225 / 7739
|
|
8
|
(HPO:0002013)
|
Vomiting |
|
|
19390613
|
IBIS
|
191 / 7739
|
|
9
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
19007737
|
IBIS
|
101 / 7739
|
|
10
|
(HPO:0002036)
|
Hiatus hernia |
|
|
8779323
|
IBIS
|
24 / 7739
|
|
11
|
(HPO:0002127)
|
Abnormal upper motor neuron morphology |
|
|
8779323
|
IBIS
|
15 / 7739
|
|
12
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
8779323
|
IBIS
|
250 / 7739
|
|
13
|
(HPO:0003487)
|
Babinski sign |
|
|
9973297
|
IBIS
|
179 / 7739
|
|
14
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
9973297
|
IBIS
|
281 / 7739
|
|
15
|
(HPO:0003700)
|
Generalized amyotrophy |
|
|
9973297
|
IBIS
|
39 / 7739
|
|
16
|
(HPO:0004322)
|
Short stature |
|
|
8779323
|
IBIS
|
1232 / 7739
|
|
17
|
(HPO:0007178)
|
Motor polyneuropathy |
|
|
9973297
|
IBIS
|
31 / 7739
|
|
18
|
(HPO:0007299)
|
Dysfunction of lateral corticospinal tracts |
|
|
8779323
|
IBIS
|
1 / 7739
|
|
19
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
8779323
|
IBIS
|
61 / 7739
|
|
20
|
(HPO:0001276)
|
Hypertonia |
|
|
8779323
|
IBIS
|
317 / 7739
|
|
21
|
(HPO:0000924)
|
Abnormality of the skeletal system |
|
|
19007737
|
IBIS
|
114 / 7739
|
|
22
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
19390613
|
IBIS
|
96 / 7739
|
|
23
|
(HPO:0003470)
|
Paralysis |
|
|
19390613
|
IBIS
|
11 / 7739
|
|
24
|
(MedDRA:10033985)
|
Paresis |
|
|
19390613
|
IBIS
|
2 / 7739
|
|
25
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
8779323
|
IBIS
|
105 / 7739
|
|
26
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
8779323
|
IBIS
|
122 / 7739
|
|
27
|
(HPO:0000763)
|
Sensory neuropathy |
|
|
9973297
|
IBIS
|
78 / 7739
|
|
28
|
(HPO:0007002)
|
Motor axonal neuropathy |
|
|
9973297
|
IBIS
|
17 / 7739
|
|
29
|
(MedDRA:10007697)
|
Carpal tunnel syndrome |
|
|
8779323
|
IBIS
|
16 / 7739
|
|
30
|
(HPO:0001263)
|
Global developmental delay |
|
|
8779323
|
IBIS
|
853 / 7739
|