|
1
|
(HPO:0000012)
|
Urinary urgency |
|
|
24969372
|
IBIS
|
35 / 7739
|
|
2
|
(HPO:0000020)
|
Urinary incontinence |
|
|
24969372
|
IBIS
|
75 / 7739
|
|
3
|
(HPO:0001270)
|
Motor delay |
|
|
19652243
|
IBIS
|
322 / 7739
|
|
4
|
(HPO:0001347)
|
Hyperreflexia |
|
|
24969372
|
IBIS
|
363 / 7739
|
|
5
|
(HPO:0001761)
|
Pes cavus |
|
|
21194679
|
IBIS
|
225 / 7739
|
|
6
|
(HPO:0002061)
|
Lower limb spasticity |
|
|
24969372
|
IBIS
|
56 / 7739
|
|
7
|
(HPO:0002064)
|
Spastic gait |
|
|
19652243
|
IBIS
|
46 / 7739
|
|
8
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
rare [HPO:skoehler]
|
|
21336785
|
IBIS
|
161 / 7739
|
|
9
|
(HPO:0002166)
|
Impaired vibration sensation in the lower limbs |
|
|
24969372
|
IBIS
|
26 / 7739
|
|
10
|
(HPO:0002314)
|
Degeneration of the lateral corticospinal tracts |
|
|
24969372
|
IBIS
|
9 / 7739
|
|
11
|
(HPO:0002650)
|
Scoliosis |
|
|
24473461
|
IBIS
|
705 / 7739
|
|
12
|
(HPO:0002839)
|
Urinary bladder sphincter dysfunction |
|
|
24969372
|
IBIS
|
34 / 7739
|
|
13
|
(HPO:0003487)
|
Babinski sign |
|
|
19652243
|
IBIS
|
179 / 7739
|
|
14
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
24969372
|
IBIS
|
61 / 7739
|
|
15
|
(HPO:0008944)
|
Distal lower limb amyotrophy |
|
|
21194679
|
IBIS
|
12 / 7739
|
|
16
|
(HPO:0010550)
|
Paraplegia |
|
|
24969372
|
IBIS
|
10 / 7739
|
|
17
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
24969372
|
IBIS
|
97 / 7739
|
|
18
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
19652243
|
IBIS
|
85 / 7739
|
|
19
|
(HPO:0002317)
|
Unsteady gait |
|
|
24969372
|
IBIS
|
45 / 7739
|
|
20
|
(HPO:0003390)
|
Sensory axonal neuropathy |
|
|
21194679
|
IBIS
|
26 / 7739
|
|
21
|
(HPO:0004334)
|
Dermal atrophy |
|
|
21194679
|
IBIS
|
34 / 7739
|
|
22
|
(HPO:0001810)
|
Dystrophic toenail |
|
|
21194679
|
IBIS
|
9 / 7739
|
|
23
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
21194679
|
IBIS
|
118 / 7739
|
|
24
|
(HPO:0001250)
|
Seizures |
|
|
21194679
|
IBIS
|
1245 / 7739
|
|
25
|
(HPO:0001251)
|
Ataxia |
|
|
21194679
|
IBIS
|
413 / 7739
|
|
26
|
(HPO:0003401)
|
Paresthesia |
|
|
24473461
|
IBIS
|
42 / 7739
|
|
27
|
(HPO:0002459)
|
Dysautonomia |
|
|
24969372
|
IBIS
|
34 / 7739
|
|
28
|
(HPO:0001249)
|
Intellectual disability |
|
|
21336785
|
IBIS
|
1089 / 7739
|
|
29
|
(HPO:0000648)
|
Optic atrophy |
|
|
24954637
|
IBIS
|
238 / 7739
|
|
30
|
(HPO:0006986)
|
Upper limb spasticity |
|
|
24954637
|
IBIS
|
15 / 7739
|
|
31
|
(HPO:0007141)
|
Sensorimotor neuropathy |
|
|
24954637
|
IBIS
|
27 / 7739
|
|
32
|
(HPO:0100543)
|
Cognitive impairment |
|
|
24954637
|
IBIS
|
230 / 7739
|
|
33
|
(HPO:0001291)
|
Abnormality of the cranial nerves |
|
|
24954637
|
IBIS
|
27 / 7739
|