|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
5
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
|
|
76 / 7739
|
|
6
|
(HPO:0002445)
|
Tetraplegia |
|
|
|
|
26 / 7739
|
|
7
|
(HPO:0002461)
|
Dense calcifications in the cerebellar dentate nucleus |
|
|
|
|
4 / 7739
|
|
8
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
9
|
(HPO:0004325)
|
Decreased body weight |
|
|
|
|
492 / 7739
|
|
10
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
11
|
(OMIM)
|
Poorly developed body habitus |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Limb contractures, severe |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Developmental delay, severe |
|
|
|
|
13 / 7739
|
|
14
|
(OMIM)
|
Severe spasticity |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
CT scan shows dense calcifications in the basal ganglia |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Calcifications may be seen in the thalamus, hippocampus, subcortical white matter, and cortex |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Neuropathologic examination shows calcification of the small brain vessels |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
No evidence of intrauterine or perinatal infection |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Normal serum calcium |
|
|
|
|
9 / 7739
|
|
20
|
(OMIM)
|
Normal serum phosphorus |
|
|
|
|
2 / 7739
|