1
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
3
|
(HPO:0000275)
|
Narrow face |
|
|
|
|
76 / 7739
|
4
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
5
|
(HPO:0000297)
|
Facial hypotonia |
|
|
|
|
8 / 7739
|
6
|
(HPO:0000307)
|
Pointed chin |
|
|
|
|
45 / 7739
|
7
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
8
|
(HPO:0000341)
|
Narrow forehead |
|
|
|
|
96 / 7739
|
9
|
(HPO:0000395)
|
Prominent antihelix |
|
|
|
|
6 / 7739
|
10
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
11
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
12
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
13
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
14
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
15
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
16
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
17
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
18
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
19
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
20
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
21
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
22
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
23
|
(HPO:0002307)
|
Drooling |
|
|
|
|
43 / 7739
|
24
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
|
|
54 / 7739
|
25
|
(HPO:0003189)
|
Long nose |
|
|
|
|
20 / 7739
|
26
|
(HPO:0003199)
|
Decreased muscle mass |
|
|
|
|
27 / 7739
|
27
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
28
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
29
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
30
|
(OMIM)
|
Long narrow face |
|
|
|
|
11 / 7739
|
31
|
(OMIM)
|
Pointed, prominent chin |
|
|
|
|
2 / 7739
|
32
|
(OMIM)
|
Hypotonia, neonatal and later |
|
|
|
|
1 / 7739
|
33
|
(OMIM)
|
Decreased muscle mass in the thighs |
|
|
|
|
1 / 7739
|
34
|
(OMIM)
|
Lack of speech development |
|
|
|
|
20 / 7739
|
35
|
(OMIM)
|
Diffuse white matter loss |
|
|
|
|
1 / 7739
|
36
|
(OMIM)
|
Stereotypic laughter |
|
|
|
|
3 / 7739
|
37
|
(OMIM)
|
Shy behavior |
|
|
|
|
1 / 7739
|
38
|
(OMIM)
|
Amicable behavior |
|
|
|
|
1 / 7739
|
39
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|