|
1
|
(HPO:0000271)
|
Abnormality of the face |
|
|
|
|
108 / 7739
|
|
2
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
3
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
4
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
5
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
6
|
(HPO:0001392)
|
Abnormality of the liver |
|
|
|
|
28 / 7739
|
|
7
|
(HPO:0001743)
|
Abnormality of the spleen |
|
|
|
|
37 / 7739
|
|
8
|
(HPO:0001982)
|
Sea-blue histiocytosis |
|
|
|
|
7 / 7739
|
|
9
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
10
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
11
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
12
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
|
|
54 / 7739
|
|
13
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
|
14
|
(HPO:0007272)
|
Progressive psychomotor deterioration |
|
|
|
|
6 / 7739
|
|
15
|
(HPO:0007281)
|
Developmental stagnation |
|
|
|
|
6 / 7739
|
|
16
|
(HPO:0008166)
|
Decreased beta-galactosidase activity |
|
|
|
|
6 / 7739
|
|
17
|
(OMIM)
|
Normal facies |
|
|
|
|
9 / 7739
|
|
18
|
(OMIM)
|
No hepatomegaly |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
No splenomegaly |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Mild platyspondyly |
|
|
|
|
14 / 7739
|
|
21
|
(OMIM)
|
Mild flaring of iliac wings |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Developmental arrest, 2nd year of life |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|