|
1
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
4
|
(HPO:0001873)
|
Thrombocytopenia |
Very frequent [Orphanet]
|
|
|
|
224 / 7739
|
|
5
|
(HPO:0001933)
|
Subcutaneous hemorrhage |
Very frequent [Orphanet]
|
|
|
|
50 / 7739
|
|
6
|
(HPO:0002119)
|
Ventriculomegaly |
Very frequent [Orphanet]
|
|
|
|
253 / 7739
|
|
7
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
8
|
(HPO:0002514)
|
Cerebral calcification |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
9
|
(HPO:0001080)
|
Biliary tract abnormality |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
10
|
(HPO:0002536)
|
Abnormal cortical gyration |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
11
|
(HPO:0000481)
|
Abnormality of the cornea |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
12
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
13
|
(HPO:0000020)
|
Urinary incontinence |
|
|
|
|
75 / 7739
|
|
14
|
(HPO:0000298)
|
Mask-like facies |
|
|
|
|
44 / 7739
|
|
15
|
(HPO:0000709)
|
Psychosis |
|
|
|
|
61 / 7739
|
|
16
|
(HPO:0000716)
|
Depression |
|
|
|
|
99 / 7739
|
|
17
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
18
|
(HPO:0001268)
|
Mental deterioration |
|
|
|
|
88 / 7739
|
|
19
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
20
|
(HPO:0001300)
|
Parkinsonism |
|
|
|
|
75 / 7739
|
|
21
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
22
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
23
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
24
|
(HPO:0002063)
|
Rigidity |
|
|
|
|
92 / 7739
|
|
25
|
(HPO:0002067)
|
Bradykinesia |
|
|
|
|
62 / 7739
|
|
26
|
(HPO:0002072)
|
Chorea |
|
|
|
|
53 / 7739
|
|
27
|
(HPO:0002075)
|
Dysdiadochokinesis |
|
|
|
|
40 / 7739
|
|
28
|
(HPO:0002135)
|
Basal ganglia calcification |
|
|
|
|
37 / 7739
|
|
29
|
(HPO:0002172)
|
Postural instability |
|
|
|
|
22 / 7739
|
|
30
|
(HPO:0002305)
|
Athetosis |
|
|
|
|
31 / 7739
|
|
31
|
(HPO:0002354)
|
Memory impairment |
|
|
|
|
63 / 7739
|
|
32
|
(HPO:0002406)
|
Limb dysmetria |
|
|
|
|
5 / 7739
|
|
33
|
(HPO:0002461)
|
Dense calcifications in the cerebellar dentate nucleus |
|
|
|
|
4 / 7739
|
|
34
|
(HPO:0002504)
|
Calcification of the small brain vessels |
|
|
|
|
2 / 7739
|
|
35
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
36
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
37
|
(HPO:0007256)
|
Abnormal pyramidal signs |
rare [HPO:skoehler]
|
|
|
|
116 / 7739
|