|
1
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
2
|
(HPO:0000253)
|
Progressive microcephaly |
|
|
16845400
|
IBIS
|
37 / 7739
|
|
3
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
4
|
(HPO:0000444)
|
Convex nasal ridge |
|
|
|
|
87 / 7739
|
|
5
|
(HPO:0001257)
|
Spasticity |
|
|
16845400
|
IBIS
|
251 / 7739
|
|
6
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
7
|
(HPO:0001332)
|
Dystonia |
|
|
16845400
|
IBIS
|
197 / 7739
|
|
8
|
(HPO:0001433)
|
Hepatosplenomegaly |
|
|
16845400
|
IBIS
|
78 / 7739
|
|
9
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
10
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
11
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
16845400
|
IBIS
|
224 / 7739
|
|
12
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
|
13
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
14
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
15
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
16
|
(HPO:0002415)
|
Leukodystrophy |
|
|
|
|
30 / 7739
|
|
17
|
(HPO:0002514)
|
Cerebral calcification |
|
|
16845400
|
IBIS
|
89 / 7739
|
|
18
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
16845400
|
IBIS
|
158 / 7739
|
|
19
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
16845400
|
IBIS
|
46 / 7739
|
|
20
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
21
|
(HPO:0200149)
|
CSF lymphocytic pleiocytosis |
|
|
|
|
3 / 7739
|
|
22
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
23
|
(OMIM)
|
Anteriorly rotated ears |
|
|
|
|
2 / 7739
|
|
24
|
(OMIM)
|
Visual inattention |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Respiratory insufficiency in neonatal period |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Clonic seizures |
|
|
|
|
3 / 7739
|
|
27
|
(OMIM)
|
Calcifications |
|
|
|
|
3 / 7739
|
|
28
|
(OMIM)
|
Brain stem atrophy |
|
|
|
|
3 / 7739
|
|
29
|
(OMIM)
|
Elevated white cell count in cerebrospinal fluid |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Elevated interferon levels in cerebrospinal fluid |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Elevated pterin levels (tetrahydrobiopterin, neopterin) in cerebrospinal fluid |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
No evidence of prenatal infection |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Increased serum alpha-interferon (IFNA1, 147660) |
|
|
|
|
2 / 7739
|
|
34
|
(OMIM)
|
Increased CSF interferon |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
36
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
37
|
(HPO:0003819)
|
Death in childhood |
|
|
|
|
42 / 7739
|