|
1
|
(HPO:0000657)
|
Oculomotor apraxia |
|
|
|
|
54 / 7739
|
|
2
|
(HPO:0001159)
|
Syndactyly |
rare [HPO:skoehler]
|
|
|
|
140 / 7739
|
|
3
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
5
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
|
|
|
|
57 / 7739
|
|
6
|
(HPO:0002883)
|
Hyperventilation |
|
|
|
|
10 / 7739
|
|
7
|
(HPO:0010442)
|
Polydactyly |
rare [HPO:skoehler]
|
|
|
|
69 / 7739
|
|
8
|
(OMIM)
|
Hyperventilation, episodic |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Abnormal breathing pattern |
|
|
|
|
8 / 7739
|
|
10
|
(HPO:0001161)
|
Hand polydactyly |
|
|
|
|
71 / 7739
|
|
11
|
(HPO:0001829)
|
Foot polydactyly |
|
|
|
|
41 / 7739
|
|
12
|
(HPO:0001770)
|
Toe syndactyly |
|
|
|
|
149 / 7739
|
|
13
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
|
|
50 / 7739
|
|
14
|
(HPO:0009700)
|
Finger symphalangism |
|
|
|
|
55 / 7739
|
|
15
|
(HPO:0010621)
|
Cutaneous syndactyly of toes |
|
|
|
|
36 / 7739
|
|
16
|
(OMIM)
|
Brain MRI shows molar tooth sign |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Cerebellar vermis agenesis |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|