|
1
|
(HPO:0000271)
|
Abnormality of the face |
|
|
|
|
108 / 7739
|
|
2
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
3
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
4
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
5
|
(HPO:0001350)
|
Slurred speech |
|
|
|
|
16 / 7739
|
|
6
|
(HPO:0001871)
|
Abnormality of blood and blood-forming tissues |
|
|
|
|
37 / 7739
|
|
7
|
(HPO:0002506)
|
Diffuse cerebral atrophy |
|
|
|
|
9 / 7739
|
|
8
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
9
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
10
|
(HPO:0002869)
|
Flared iliac wings |
|
|
|
|
20 / 7739
|
|
11
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
12
|
(HPO:0003274)
|
Hypoplastic acetabulae |
|
|
|
|
7 / 7739
|
|
13
|
(HPO:0003651)
|
Foam cells |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
15
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|
|
16
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
|
17
|
(HPO:0008166)
|
Decreased beta-galactosidase activity |
|
|
|
|
6 / 7739
|
|
18
|
(HPO:0008430)
|
Anterior beaking of lumbar vertebrae |
|
|
|
|
5 / 7739
|
|
19
|
(OMIM)
|
Normal facies |
|
|
|
|
9 / 7739
|
|
20
|
(OMIM)
|
No cherry red spots |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
No hepatomegaly |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
No splenomegaly |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Mild platyspondyly |
|
|
|
|
14 / 7739
|
|
24
|
(OMIM)
|
Mild anterior beaking of lumbar vertebrae |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Flat femoral heads |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Normal early development |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Cerebral atrophy, mild, diffuse |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
No myoclonus |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
No seizures |
|
|
|
|
5 / 7739
|
|
30
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|