|
1
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
3
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
4
|
(HPO:0000821)
|
Hypothyroidism |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
|
5
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
6
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
7
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
8
|
(HPO:0001315)
|
Reduced tendon reflexes |
Very frequent [Orphanet]
|
|
|
|
160 / 7739
|
|
9
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
10
|
(HPO:0002066)
|
Gait ataxia |
Frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
11
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
12
|
(HPO:0007021)
|
Pain insensitivity |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
13
|
(HPO:0010628)
|
Facial palsy |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
14
|
(HPO:0100022)
|
Abnormality of movement |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
15
|
(HPO:0100651)
|
Type I diabetes mellitus |
Occasional [Orphanet]
|
|
|
|
44 / 7739
|
|
16
|
(HPO:0003134)
|
Abnormality of peripheral nerve conduction |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
17
|
(HPO:0012795)
|
Abnormality of the optic disc |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
18
|
(HPO:0100543)
|
Cognitive impairment |
Very frequent [Orphanet]
|
|
|
|
230 / 7739
|
|
19
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|