1
|
(HPO:0000218)
|
High palate |
rare [HPO:skoehler]
|
|
|
|
356 / 7739
|
2
|
(HPO:0002705)
|
High, narrow palate |
|
|
|
|
308 / 7739
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
4
|
(HPO:0000431)
|
Wide nasal bridge |
rare [HPO:skoehler]
|
|
|
|
290 / 7739
|
5
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
6
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
7
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
8
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
9
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
10
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
11
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
12
|
(HPO:0001763)
|
Pes planus |
rare [HPO:skoehler]
|
|
|
|
176 / 7739
|
13
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
14
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
15
|
(HPO:0002518)
|
Abnormality of the periventricular white matter |
|
|
|
|
24 / 7739
|
16
|
(HPO:0002816)
|
Genu recurvatum |
rare [HPO:skoehler]
|
|
|
|
30 / 7739
|
17
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
18
|
(HPO:0004322)
|
Short stature |
rare [HPO:skoehler]
|
|
|
|
1232 / 7739
|
19
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
20
|
(OMIM)
|
Joint hyperlaxity |
|
|
|
|
5 / 7739
|
21
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
22
|
(HPO:0006487)
|
Bowing of the long bones |
|
|
|
|
95 / 7739
|
23
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
24
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
25
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
26
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
27
|
(OMIM)
|
Hypertonia later |
|
|
|
|
3 / 7739
|
28
|
(OMIM)
|
Inability to walk unaided |
|
|
|
|
1 / 7739
|
29
|
(HPO:0002373)
|
Febrile seizures |
|
|
|
|
37 / 7739
|
30
|
(OMIM)
|
Stereotypic laughter |
|
|
|
|
3 / 7739
|
31
|
(OMIM)
|
Shy character |
|
|
|
|
2 / 7739
|
32
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
33
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
34
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
35
|
(HPO:0000341)
|
Narrow forehead |
|
|
|
|
96 / 7739
|
36
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
37
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
38
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
39
|
(HPO:0001762)
|
Talipes equinovarus |
rare [HPO:skoehler]
|
|
|
|
309 / 7739
|
40
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
41
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|