|
1
|
(HPO:0000303)
|
Mandibular prognathia |
Very frequent [Orphanet]
|
|
|
|
179 / 7739
|
|
2
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
3
|
(HPO:0000322)
|
Short philtrum |
Frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
4
|
(HPO:0000336)
|
Prominent supraorbital ridges |
Frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
5
|
(HPO:0000664)
|
Synophrys |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
6
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
7
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
8
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
9
|
(HPO:0002066)
|
Gait ataxia |
Frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
10
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
11
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
12
|
(HPO:0005487)
|
Prominent metopic ridge |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
13
|
(HPO:0009830)
|
Peripheral neuropathy |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
14
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
15
|
(HPO:0000411)
|
Protruding ear |
Frequent [Orphanet]
|
|
|
|
140 / 7739
|
|
16
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
17
|
(HPO:0011362)
|
Abnormal hair quantity |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
18
|
(HPO:0010701)
|
Abnormal immunoglobulin level |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
19
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|