|
1
|
(HPO:0001347)
|
Hyperreflexia |
Very frequent [Orphanet]
|
|
|
|
363 / 7739
|
|
2
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0000298)
|
Mask-like facies |
Frequent [Orphanet]
|
|
|
|
44 / 7739
|
|
5
|
(HPO:0001601)
|
Laryngomalacia |
Very frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
6
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
7
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
8
|
(HPO:0001608)
|
Abnormality of the voice |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
9
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
10
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
|
11
|
(HPO:0004886)
|
Congenital laryngeal stridor |
|
|
|
|
3 / 7739
|
|
12
|
(OMIM)
|
Congenital laryngeal abductor paralysis |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
14
|
(HPO:0011420)
|
Death |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
15
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
16
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
17
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|