1
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
2
|
(HPO:0000464)
|
Abnormality of the neck |
|
|
|
|
31 / 7739
|
3
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
4
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
5
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
6
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
8
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
9
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
10
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
11
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
12
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
13
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
14
|
(HPO:0002075)
|
Dysdiadochokinesis |
|
|
|
|
40 / 7739
|
15
|
(HPO:0002078)
|
Truncal ataxia |
|
|
|
|
41 / 7739
|
16
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
17
|
(HPO:0002283)
|
Global brain atrophy |
|
|
|
|
12 / 7739
|
18
|
(HPO:0002942)
|
Thoracic kyphosis |
|
|
|
|
14 / 7739
|
19
|
(HPO:0002943)
|
Thoracic scoliosis |
|
|
|
|
12 / 7739
|
20
|
(HPO:0004279)
|
Short palm |
|
|
|
|
323 / 7739
|
21
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
22
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
23
|
(HPO:0007047)
|
Atrophy of the dentate nucleus |
|
|
|
|
3 / 7739
|
24
|
(HPO:0007063)
|
Aplasia of the inferior half of the cerebellar vermis |
|
|
|
|
1 / 7739
|
25
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
26
|
(HPO:0200055)
|
Small hand |
|
|
|
|
71 / 7739
|
27
|
(OMIM)
|
Head is flexed forward |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Wide and short nape of the neck |
|
|
|
|
1 / 7739
|
29
|
(OMIM)
|
Skull is flexed forward on the spine |
|
|
|
|
1 / 7739
|
30
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
31
|
(OMIM)
|
Absence of language development |
|
|
|
|
1 / 7739
|
32
|
(OMIM)
|
Quadrupedal gait (palm of hands, legs straight) with diagonal walking |
|
|
|
|
1 / 7739
|
33
|
(OMIM)
|
Truncal ataxia, severe |
|
|
|
|
1 / 7739
|
34
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
35
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|