|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000639)
|
Nystagmus |
rare [HPO:skoehler]
|
|
|
|
555 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
6
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
7
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
8
|
(HPO:0001647)
|
Bicuspid aortic valve |
rare [HPO:skoehler]
|
|
|
|
34 / 7739
|
|
9
|
(HPO:0001760)
|
Abnormality of the foot |
rare [HPO:skoehler]
|
|
|
|
96 / 7739
|
|
10
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
11
|
(HPO:0002465)
|
Poor speech |
|
|
|
|
31 / 7739
|
|
12
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
13
|
(HPO:0012448)
|
Delayed myelination |
|
|
|
|
51 / 7739
|