|
1
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
2
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
5
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
6
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
7
|
(HPO:0002075)
|
Dysdiadochokinesis |
|
|
|
|
40 / 7739
|
|
8
|
(HPO:0003438)
|
Absent Achilles reflex |
|
|
|
|
9 / 7739
|
|
9
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
10
|
(HPO:0007083)
|
Hyperactive patellar reflex |
|
|
|
|
4 / 7739
|
|
11
|
(OMIM)
|
Early onset optic atrophy |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Hyperactive knee jerks |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
14
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
15
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
|
|
160 / 7739
|
|
16
|
(OMIM)
|
Abnormal tandem gait |
|
|
|
|
1 / 7739
|