|
1
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
2
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
3
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
4
|
(HPO:0002283)
|
Global brain atrophy |
|
|
|
|
12 / 7739
|
|
5
|
(HPO:0002871)
|
Central apnea |
|
|
|
|
10 / 7739
|
|
6
|
(HPO:0002922)
|
Increased CSF protein |
|
|
|
|
27 / 7739
|
|
7
|
(HPO:0007266)
|
Cerebral dysmyelination |
|
|
|
|
13 / 7739
|
|
8
|
(OMIM)
|
Neurologic regression around age 3 months |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Loss of spontaneous movements |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Diffuse white matter dysmyelination |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Decreased activity of galactocerebrosidase |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Saposin A deficiency |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Early death |
|
|
|
|
13 / 7739
|
|
14
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
15
|
(HPO:0002878)
|
Respiratory failure |
|
|
|
|
57 / 7739
|
|
16
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
17
|
(HPO:0003819)
|
Death in childhood |
|
|
|
|
42 / 7739
|