|
1
|
(HPO:0000577)
|
Exotropia |
|
|
|
|
43 / 7739
|
|
2
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
3
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
7
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
8
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
9
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
10
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
11
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
12
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
13
|
(HPO:0001922)
|
Vacuolated lymphocytes |
|
|
|
|
13 / 7739
|
|
14
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
15
|
(HPO:0002305)
|
Athetosis |
|
|
|
|
31 / 7739
|
|
16
|
(HPO:0002540)
|
Inability to walk |
|
|
|
|
19 / 7739
|
|
17
|
(HPO:0002684)
|
Thickened calvaria |
|
|
|
|
32 / 7739
|
|
18
|
(OMIM)
|
Height 2 S.D. below expected height |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
20
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
21
|
(MedDRA:10013976)
|
Dyspraxia |
|
|
|
|
3 / 7739
|
|
22
|
(OMIM)
|
Increased urinary free sialic acid excretion (N-acetylneuraminic acid, 5-20x normal) Enlarged lysosomal vacuoles in lymphocytes and fibroblasts |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|