|
1
|
(HPO:0000545)
|
Myopia |
|
|
29123918
|
IBIS
|
286 / 7739
|
|
2
|
(HPO:0000639)
|
Nystagmus |
|
|
29123918
|
IBIS
|
555 / 7739
|
|
3
|
(HPO:0000648)
|
Optic atrophy |
|
|
24482476; 29123918
|
IBIS
|
238 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
24482476; 29123918
|
IBIS
|
1089 / 7739
|
|
5
|
(HPO:0002061)
|
Lower limb spasticity |
|
|
28327087
|
IBIS
|
56 / 7739
|
|
6
|
(HPO:0002064)
|
Spastic gait |
|
|
24482476; 29123918
|
IBIS
|
46 / 7739
|
|
7
|
(HPO:0003487)
|
Babinski sign |
|
|
29123918
|
IBIS
|
179 / 7739
|
|
8
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
24482476; 29123918
|
IBIS
|
97 / 7739
|
|
9
|
(HPO:0001762)
|
Talipes equinovarus |
rare [HPO:skoehler]
|
|
24482476; 29123918; 28327087
|
IBIS
|
309 / 7739
|
|
10
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
24482476; 29123918
|
IBIS
|
161 / 7739
|
|
11
|
(HPO:0006989)
|
Dysplastic corpus callosum |
|
|
24482476
|
IBIS
|
7 / 7739
|
|
12
|
(HPO:0001288)
|
Gait disturbance |
|
|
24482476; 29123918
|
IBIS
|
318 / 7739
|
|
13
|
(HPO:0006801)
|
Hyperactive deep tendon reflexes |
|
|
24482476; 29123918
|
IBIS
|
21 / 7739
|
|
14
|
(HPO:0010677)
|
Enuresis nocturna |
|
|
24482476
|
IBIS
|
7 / 7739
|
|
15
|
(HPO:0001273)
|
Abnormality of the corpus callosum |
|
|
24482476
|
IBIS
|
20 / 7739
|
|
16
|
(HPO:0012447)
|
Abnormal myelination |
|
|
24482476
|
IBIS
|
7 / 7739
|
|
17
|
(HPO:0002169)
|
Clonus |
|
|
24482476
|
IBIS
|
37 / 7739
|
|
18
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
24482476
|
IBIS
|
56 / 7739
|
|
19
|
(HPO:0004322)
|
Short stature |
|
|
24482476; 29123918
|
IBIS
|
1232 / 7739
|
|
20
|
(HPO:0004325)
|
Decreased body weight |
|
|
24482476; 29123918
|
IBIS
|
492 / 7739
|
|
21
|
(HPO:0002816)
|
Genu recurvatum |
|
|
24482476
|
IBIS
|
30 / 7739
|
|
22
|
(HPO:0000486)
|
Strabismus |
|
|
24482476; 29123918
|
IBIS
|
576 / 7739
|
|
23
|
(HPO:0000501)
|
Glaucoma |
|
|
24482476; 29123918
|
IBIS
|
180 / 7739
|
|
24
|
(HPO:0001263)
|
Global developmental delay |
|
|
29123918; 28327087
|
IBIS
|
853 / 7739
|
|
25
|
(HPO:0001260)
|
Dysarthria |
|
|
29123918
|
IBIS
|
329 / 7739
|
|
26
|
(HPO:0000519)
|
Congenital cataract |
|
|
29123918
|
IBIS
|
73 / 7739
|
|
27
|
(HPO:0000540)
|
Hypermetropia |
|
|
29123918
|
IBIS
|
99 / 7739
|
|
28
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
29123918
|
IBIS
|
73 / 7739
|
|
29
|
(HPO:0000718)
|
Aggressive behavior |
|
|
29123918
|
IBIS
|
109 / 7739
|
|
30
|
(HPO:0003307)
|
Hyperlordosis |
|
|
29123918
|
IBIS
|
122 / 7739
|
|
31
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
28327087
|
IBIS
|
77 / 7739
|
|
32
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
28327087
|
IBIS
|
197 / 7739
|
|
33
|
(HPO:0100543)
|
Cognitive impairment |
|
|
28327087
|
IBIS
|
230 / 7739
|
|
34
|
(HPO:0002317)
|
Unsteady gait |
|
|
28327087
|
IBIS
|
45 / 7739
|
|
35
|
(HPO:0012407)
|
Scissor gait |
|
|
28327087
|
IBIS
|
6 / 7739
|
|
36
|
(HPO:0030051)
|
Tip-toe gait |
|
|
28327087
|
IBIS
|
10 / 7739
|
|
37
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
28327087
|
IBIS
|
73 / 7739
|
|
38
|
(HPO:0011448)
|
Ankle clonus |
|
|
28327087
|
IBIS
|
31 / 7739
|