1
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
2
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
3
|
(HPO:0000625)
|
Cleft eyelid |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
4
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
5
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
6
|
(HPO:0001357)
|
Plagiocephaly |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
7
|
(HPO:0002132)
|
Porencephaly |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
8
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
9
|
(HPO:0012443)
|
Abnormality of brain morphology |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
10
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
11
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
13
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
14
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
15
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
16
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
17
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
|
|
76 / 7739
|
18
|
(HPO:0002135)
|
Basal ganglia calcification |
|
|
|
|
37 / 7739
|
19
|
(HPO:0002445)
|
Tetraplegia |
|
|
|
|
26 / 7739
|
20
|
(HPO:0002461)
|
Dense calcifications in the cerebellar dentate nucleus |
|
|
|
|
4 / 7739
|
21
|
(HPO:0002504)
|
Calcification of the small brain vessels |
|
|
|
|
2 / 7739
|
22
|
(HPO:0003121)
|
Limb joint contracture |
|
|
|
|
8 / 7739
|
23
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
24
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
25
|
(HPO:0004325)
|
Decreased body weight |
|
|
|
|
492 / 7739
|
26
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
27
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|