|
1
|
(HPO:0002652)
|
Skeletal dysplasia |
Occasional [Orphanet]
|
|
|
|
113 / 7739
|
|
2
|
(HPO:0000924)
|
Abnormality of the skeletal system |
Occasional [Orphanet]
|
|
|
|
114 / 7739
|
|
3
|
(HPO:0000572)
|
Visual loss |
Very frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
4
|
(HPO:0002205)
|
Recurrent respiratory infections |
Frequent [Orphanet]
|
|
|
|
254 / 7739
|
|
5
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
6
|
(HPO:0002808)
|
Kyphosis |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
7
|
(HPO:0008002)
|
Abnormality of macular pigmentation |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
|
8
|
(HPO:0010729)
|
Cherry red spot of the macula |
|
|
|
|
10 / 7739
|
|
9
|
(HPO:0001744)
|
Splenomegaly |
Frequent [Orphanet]
|
|
|
|
337 / 7739
|
|
10
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
|
11
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
12
|
(HPO:0002240)
|
Hepatomegaly |
Frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
13
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
14
|
(HPO:0000293)
|
Full cheeks |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
15
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
16
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
17
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
18
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
19
|
(HPO:0000158)
|
Macroglossia |
|
|
|
|
119 / 7739
|
|
20
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
21
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
22
|
(HPO:0000802)
|
Impotence |
|
|
|
|
20 / 7739
|
|
23
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
24
|
(HPO:0001278)
|
Orthostatic hypotension |
|
|
|
|
24 / 7739
|
|
25
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
26
|
(HPO:0001433)
|
Hepatosplenomegaly |
|
|
|
|
78 / 7739
|
|
27
|
(HPO:0001640)
|
Cardiomegaly |
|
|
|
|
81 / 7739
|
|
28
|
(HPO:0002028)
|
Chronic diarrhea |
|
|
|
|
51 / 7739
|
|
29
|
(HPO:0002380)
|
Fasciculations |
|
|
|
|
42 / 7739
|
|
30
|
(HPO:0002574)
|
Episodic abdominal pain |
|
|
|
|
10 / 7739
|
|
31
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
32
|
(HPO:0006901)
|
Impaired thermal sensitivity |
|
|
|
|
4 / 7739
|
|
33
|
(HPO:0007272)
|
Progressive psychomotor deterioration |
|
|
|
|
6 / 7739
|
|
34
|
(OMIM)
|
Mild urinary incontinence |
|
|
|
|
4 / 7739
|
|
35
|
(OMIM)
|
Startle reaction |
|
|
|
|
4 / 7739
|
|
36
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
|
37
|
(MedDRA:10013578)
|
Dizziness postural |
|
|
|
|
4 / 7739
|
|
38
|
(OMIM)
|
High lumbar gibbus |
|
|
|
|
4 / 7739
|
|
39
|
(OMIM)
|
Hexosaminidase B beta chain deficiency |
|
|
|
|
4 / 7739
|
|
40
|
(OMIM)
|
Infantile muscle weakness |
|
|
|
|
4 / 7739
|
|
41
|
(OMIM)
|
Early blindness |
|
|
|
|
6 / 7739
|
|
42
|
(OMIM)
|
Doll-like face |
|
|
|
|
4 / 7739
|
|
43
|
(OMIM)
|
Impaired sweating |
|
|
|
|
4 / 7739
|
|
44
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
45
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
46
|
(HPO:0011442)
|
Abnormality of central motor function |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|