|
1
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
2
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
3
|
(HPO:0000712)
|
Emotional lability |
|
|
|
|
44 / 7739
|
|
4
|
(HPO:0000736)
|
Short attention span |
|
|
|
|
16 / 7739
|
|
5
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
6
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
|
7
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
8
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
9
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
10
|
(HPO:0001268)
|
Mental deterioration |
|
|
|
|
88 / 7739
|
|
11
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
12
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
13
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
14
|
(HPO:0001884)
|
Talipes calcaneovalgus |
|
|
|
|
14 / 7739
|
|
15
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
16
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
17
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
18
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
19
|
(HPO:0002067)
|
Bradykinesia |
|
|
|
|
62 / 7739
|
|
20
|
(HPO:0002072)
|
Chorea |
|
|
|
|
53 / 7739
|
|
21
|
(HPO:0002075)
|
Dysdiadochokinesis |
|
|
|
|
40 / 7739
|
|
22
|
(HPO:0002080)
|
Intention tremor |
|
|
|
|
44 / 7739
|
|
23
|
(HPO:0002185)
|
Neurofibrillary tangles |
|
|
|
|
14 / 7739
|
|
24
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
25
|
(HPO:0007772)
|
Impaired smooth pursuit |
|
|
|
|
21 / 7739
|
|
26
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
27
|
(HPO:0100710)
|
Impulsivity |
|
|
|
|
16 / 7739
|
|
28
|
(OMIM)
|
Abnormal saccades |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Extrapyramidal features |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Chorea of all limbs |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Progressive loss of movement control |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
33
|
(OMIM)
|
Loss of independent ambulation within a few years |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Increased iron deposition in the basal ganglia |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
'Eye of the tiger' sign on MRI |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Axonal swellings or spheroids |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Lewy bodies in the substantia nigra |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Lewy bodies throughout the brain |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Diminished social interaction |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
[DEL]Autistic features |
|
|
|
|
43 / 7739
|
|
41
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
42
|
(HPO:0002180)
|
Neurodegeneration |
|
|
|
|
31 / 7739
|
|
43
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
44
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|