|
1
|
(HPO:0000253)
|
Progressive microcephaly |
|
|
16845400
|
IBIS
|
37 / 7739
|
|
2
|
(HPO:0001257)
|
Spasticity |
|
|
16845400
|
IBIS
|
251 / 7739
|
|
3
|
(HPO:0001332)
|
Dystonia |
|
|
16845400
|
IBIS
|
197 / 7739
|
|
4
|
(HPO:0001433)
|
Hepatosplenomegaly |
|
|
16845400
|
IBIS
|
78 / 7739
|
|
5
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
16845400
|
IBIS
|
224 / 7739
|
|
6
|
(HPO:0002514)
|
Cerebral calcification |
|
|
16845400
|
IBIS
|
89 / 7739
|
|
7
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
16845400
|
IBIS
|
158 / 7739
|
|
8
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
16845400
|
IBIS
|
46 / 7739
|
|
9
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
10
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
11
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
12
|
(HPO:0001298)
|
Encephalopathy |
|
|
|
|
72 / 7739
|
|
13
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
14
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
15
|
(HPO:0003819)
|
Death in childhood |
|
|
|
|
42 / 7739
|
|
16
|
(HPO:0012448)
|
Delayed myelination |
|
|
|
|
51 / 7739
|
|
17
|
(HPO:0200149)
|
CSF lymphocytic pleiocytosis |
|
|
|
|
3 / 7739
|