|
1
|
(HPO:0000253)
|
Progressive microcephaly |
|
|
|
|
37 / 7739
|
|
2
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
3
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
4
|
(HPO:0000967)
|
Petechiae |
|
|
|
|
26 / 7739
|
|
5
|
(HPO:0000979)
|
Purpura |
|
|
|
|
27 / 7739
|
|
6
|
(HPO:0001063)
|
Acrocyanosis |
|
|
|
|
56 / 7739
|
|
7
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
8
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
9
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
10
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
11
|
(HPO:0001433)
|
Hepatosplenomegaly |
|
|
|
|
78 / 7739
|
|
12
|
(HPO:0001744)
|
Splenomegaly |
rare [HPO:skoehler]
|
|
|
|
337 / 7739
|
|
13
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
14
|
(HPO:0001945)
|
Fever |
|
|
|
|
218 / 7739
|
|
15
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
16
|
(HPO:0002062)
|
Morphological abnormality of the pyramidal tract |
|
|
|
|
24 / 7739
|
|
17
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
|
|
76 / 7739
|
|
18
|
(HPO:0002135)
|
Basal ganglia calcification |
|
|
|
|
37 / 7739
|
|
19
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
|
|
44 / 7739
|
|
20
|
(HPO:0002240)
|
Hepatomegaly |
rare [HPO:skoehler]
|
|
|
|
467 / 7739
|
|
21
|
(HPO:0002352)
|
Leukoencephalopathy |
|
|
|
|
32 / 7739
|
|
22
|
(HPO:0002421)
|
Poor head control |
|
|
|
|
23 / 7739
|
|
23
|
(HPO:0002448)
|
Progressive encephalopathy |
|
|
|
|
6 / 7739
|
|
24
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
25
|
(HPO:0004394)
|
Multiple gastric polyps |
|
|
|
|
9 / 7739
|
|
26
|
(HPO:0006579)
|
Prolonged neonatal jaundice |
|
|
|
|
25 / 7739
|
|
27
|
(HPO:0007321)
|
Deep white matter hypodensities |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
29
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
30
|
(HPO:0009704)
|
Chronic CSF lymphocytosis |
|
|
|
|
2 / 7739
|
|
31
|
(HPO:0009709)
|
Increased CSF interferon alpha |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0009710)
|
Chilblain lesions |
|
|
|
|
3 / 7739
|
|
33
|
(OMIM)
|
Visual inattention |
|
|
|
|
2 / 7739
|
|
34
|
(HPO:0000496)
|
Abnormality of eye movement |
|
|
|
|
79 / 7739
|
|
35
|
(OMIM)
|
Acrocyanosis of the feet (in some patients) |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Chilblains |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Developmental retardation, profound |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Tetraplegic spasticity |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Cerebral atrophy, progressive |
|
|
|
|
4 / 7739
|
|
40
|
(OMIM)
|
Bilateral, symmetric intracerebral calcifications, especially in the basal ganglia and periventricular areas |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
No evidence of common prenatal infections |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Increased serum alpha-interferon (IFNA1, 147660) |
|
|
|
|
2 / 7739
|
|
43
|
(HPO:0200149)
|
CSF lymphocytic pleiocytosis |
|
|
|
|
3 / 7739
|
|
44
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
45
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|