1
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
2
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
3
|
(HPO:0001347)
|
Hyperreflexia |
Very frequent [Orphanet]
|
|
|
|
363 / 7739
|
4
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
5
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
6
|
(HPO:0002381)
|
Aphasia |
|
|
|
|
27 / 7739
|
7
|
(HPO:0001181)
|
Adducted thumb |
|
|
|
|
31 / 7739
|
8
|
(HPO:0002119)
|
Ventriculomegaly |
Occasional [Orphanet]
|
|
|
|
253 / 7739
|
9
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
10
|
(HPO:0100490)
|
Camptodactyly of finger |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
11
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
12
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
13
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
14
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
15
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
16
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
17
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
18
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
19
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
20
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
21
|
(HPO:0002362)
|
Shuffling gait |
|
|
|
|
13 / 7739
|
22
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
23
|
(HPO:0003307)
|
Hyperlordosis |
|
|
|
|
122 / 7739
|
24
|
(HPO:0002061)
|
Lower limb spasticity |
|
|
|
|
56 / 7739
|
25
|
(HPO:0001172)
|
Abnormality of the thumb |
Very frequent [Orphanet]
|
|
|
|
103 / 7739
|
26
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|