1
|
(HPO:0001347)
|
Hyperreflexia |
Frequent [Orphanet]
|
|
|
|
363 / 7739
|
2
|
(HPO:0002103)
|
Abnormality of the pleura |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
3
|
(HPO:0002205)
|
Recurrent respiratory infections |
Frequent [Orphanet]
|
|
|
|
254 / 7739
|
4
|
(HPO:0003198)
|
Myopathy |
Occasional [Orphanet]
|
|
|
|
151 / 7739
|
5
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
6
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
7
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
8
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
9
|
(HPO:0000009)
|
Functional abnormality of the bladder |
|
|
|
|
2 / 7739
|
10
|
(HPO:0000079)
|
Abnormality of the urinary system |
Frequent [Orphanet]
|
|
|
|
88 / 7739
|
11
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
12
|
(HPO:0001348)
|
Brisk reflexes |
|
|
|
|
15 / 7739
|
13
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
14
|
(HPO:0006830)
|
Severe neonatal hypotonia in males |
|
|
|
|
1 / 7739
|
15
|
(HPO:0008348)
|
Immunoglobulin IgG2 deficiency |
|
|
|
|
5 / 7739
|
16
|
(HPO:0009073)
|
Progressive proximal muscle weakness |
|
|
|
|
8 / 7739
|
17
|
(OMIM)
|
Low birth weight in males |
|
|
|
|
1 / 7739
|
18
|
(OMIM)
|
Complex hereditary spastic paraplegia in females |
|
|
|
|
1 / 7739
|
19
|
(OMIM)
|
IgG2 deficiency |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Muscle weakness, proximal, slowly progressive |
|
|
|
|
2 / 7739
|
21
|
(OMIM)
|
Static reduced night vision |
|
|
|
|
1 / 7739
|
22
|
(HPO:0000504)
|
Abnormality of vision |
Frequent [Orphanet]
|
|
|
|
22 / 7739
|
23
|
(HPO:0010701)
|
Abnormal immunoglobulin level |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
24
|
(HPO:0012638)
|
Abnormality of nervous system physiology |
Frequent [Orphanet]
|
|
|
|
12 / 7739
|
25
|
(HPO:0011420)
|
Death |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
26
|
(HPO:0000662)
|
Nyctalopia |
|
|
|
|
92 / 7739
|
27
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|
28
|
(HPO:0003811)
|
Neonatal death |
|
|
|
|
44 / 7739
|