|
1
|
(HPO:0000252)
|
Microcephaly |
2/4 [HPO:probinson]
|
|
24482476
|
IBIS
|
832 / 7739
|
|
2
|
(HPO:0000519)
|
Congenital cataract |
rare [HPO:skoehler]
|
|
24482476
|
IBIS
|
73 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
|
|
24482476; 30652007
|
IBIS
|
1089 / 7739
|
|
4
|
(HPO:0001258)
|
Spastic paraplegia |
4/4 [HPO:probinson]
|
|
24482476
|
IBIS
|
97 / 7739
|
|
5
|
(HPO:0001260)
|
Dysarthria |
|
|
24482476; 30652007
|
IBIS
|
329 / 7739
|
|
6
|
(HPO:0001288)
|
Gait disturbance |
|
|
24482476
|
IBIS
|
318 / 7739
|
|
7
|
(HPO:0001762)
|
Talipes equinovarus |
rare [HPO:skoehler]
|
|
24482476
|
IBIS
|
309 / 7739
|
|
8
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
2/2 [HPO:probinson]
|
|
24482476
|
IBIS
|
73 / 7739
|
|
9
|
(HPO:0006801)
|
Hyperactive deep tendon reflexes |
|
|
24482476
|
IBIS
|
21 / 7739
|
|
10
|
(HPO:0000718)
|
Aggressive behavior |
|
|
24482476; 30652007
|
IBIS
|
109 / 7739
|
|
11
|
(HPO:0000823)
|
Delayed puberty |
|
|
24482476
|
IBIS
|
65 / 7739
|
|
12
|
(HPO:0040078)
|
Axonal degeneration |
|
|
24482476
|
IBIS
|
10 / 7739
|
|
13
|
(HPO:0002317)
|
Unsteady gait |
|
|
30652007
|
IBIS
|
45 / 7739
|
|
14
|
(HPO:0030051)
|
Tip-toe gait |
|
|
30652007
|
IBIS
|
10 / 7739
|
|
15
|
(HPO:0001611)
|
Nasal speech |
|
|
30652007
|
IBIS
|
48 / 7739
|
|
16
|
(HPO:0002136)
|
Broad-based gait |
|
|
30652007
|
IBIS
|
30 / 7739
|
|
17
|
(HPO:0002061)
|
Lower limb spasticity |
|
|
30652007
|
IBIS
|
56 / 7739
|
|
18
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
30652007
|
IBIS
|
160 / 7739
|
|
19
|
(HPO:0003487)
|
Babinski sign |
|
|
30652007
|
IBIS
|
179 / 7739
|
|
20
|
(HPO:0002495)
|
Impaired vibratory sensation |
|
|
30652007
|
IBIS
|
26 / 7739
|
|
21
|
(HPO:0010831)
|
Impaired proprioception |
|
|
30652007
|
IBIS
|
7 / 7739
|