|
1
|
(HPO:0011001)
|
Increased bone mineral density |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
|
2
|
(HPO:0000276)
|
Long face |
Occasional [Orphanet]
|
|
|
|
109 / 7739
|
|
3
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
6
|
(HPO:0000238)
|
Hydrocephalus |
Very frequent [Orphanet]
|
|
|
|
278 / 7739
|
|
7
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
8
|
(HPO:0002514)
|
Cerebral calcification |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
9
|
(HPO:0000322)
|
Short philtrum |
Frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
10
|
(HPO:0000708)
|
Behavioral abnormality |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
11
|
(HPO:0001382)
|
Joint hypermobility |
Occasional [Orphanet]
|
|
|
|
231 / 7739
|
|
12
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
13
|
(HPO:0004326)
|
Cachexia |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
|
14
|
(HPO:0000598)
|
Abnormality of the ear |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
|
15
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
16
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
17
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
18
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|