|
1
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
4
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
|
5
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
|
6
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
9
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
10
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
11
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
13
|
(HPO:0006957)
|
Loss of ability to walk |
|
|
|
|
7 / 7739
|
|
14
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
15
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
16
|
(OMIM)
|
Decreased shank muscle mass |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Lack of speech development |
|
|
|
|
20 / 7739
|
|
18
|
(OMIM)
|
Stereotypic laughter |
|
|
|
|
3 / 7739
|
|
19
|
(OMIM)
|
Shy character |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Amicable character |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
|
22
|
(HPO:0100021)
|
Cerebral palsy |
|
|
|
|
36 / 7739
|