|
1
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
2
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0001285)
|
Spastic tetraparesis |
|
|
|
|
29 / 7739
|
|
5
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
|
|
|
|
57 / 7739
|
|
6
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
7
|
(HPO:0001371)
|
Flexion contracture |
rare [HPO:skoehler]
|
|
|
|
220 / 7739
|
|
8
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
9
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
10
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
|
11
|
(HPO:0002878)
|
Respiratory failure |
|
|
|
|
57 / 7739
|
|
12
|
(HPO:0007269)
|
Spinal muscular atrophy |
|
|
|
|
24 / 7739
|
|
13
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|