|
1
|
(HPO:0000158)
|
Macroglossia |
|
|
|
|
119 / 7739
|
|
2
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
3
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
4
|
(HPO:0000802)
|
Impotence |
|
|
|
|
20 / 7739
|
|
5
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
6
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
7
|
(HPO:0001278)
|
Orthostatic hypotension |
|
|
|
|
24 / 7739
|
|
8
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
9
|
(HPO:0001433)
|
Hepatosplenomegaly |
|
|
|
|
78 / 7739
|
|
10
|
(HPO:0001640)
|
Cardiomegaly |
|
|
|
|
81 / 7739
|
|
11
|
(HPO:0002028)
|
Chronic diarrhea |
|
|
|
|
51 / 7739
|
|
12
|
(HPO:0002380)
|
Fasciculations |
|
|
|
|
42 / 7739
|
|
13
|
(HPO:0002574)
|
Episodic abdominal pain |
|
|
|
|
10 / 7739
|
|
14
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
15
|
(HPO:0006901)
|
Impaired thermal sensitivity |
|
|
|
|
4 / 7739
|
|
16
|
(HPO:0007272)
|
Progressive psychomotor deterioration |
|
|
|
|
6 / 7739
|
|
17
|
(HPO:0010729)
|
Cherry red spot of the macula |
|
|
|
|
10 / 7739
|
|
18
|
(OMIM)
|
Mild urinary incontinence |
|
|
|
|
4 / 7739
|
|
19
|
(OMIM)
|
Startle reaction |
|
|
|
|
4 / 7739
|
|
20
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
|
21
|
(MedDRA:10013578)
|
Dizziness postural |
|
|
|
|
4 / 7739
|
|
22
|
(OMIM)
|
High lumbar gibbus |
|
|
|
|
4 / 7739
|
|
23
|
(OMIM)
|
Hexosaminidase B beta chain deficiency |
|
|
|
|
4 / 7739
|
|
24
|
(OMIM)
|
Infantile muscle weakness |
|
|
|
|
4 / 7739
|
|
25
|
(OMIM)
|
Early blindness |
|
|
|
|
6 / 7739
|
|
26
|
(OMIM)
|
Doll-like face |
|
|
|
|
4 / 7739
|
|
27
|
(OMIM)
|
Impaired sweating |
|
|
|
|
4 / 7739
|