|
1
|
(HPO:0000518)
|
Cataract |
|
|
2317015
|
IBIS
|
454 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
2317015
|
IBIS
|
990 / 7739
|
|
3
|
(HPO:0001324)
|
Muscle weakness |
|
|
2317015
|
IBIS
|
859 / 7739
|
|
4
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
2317015
|
IBIS
|
192 / 7739
|
|
5
|
(HPO:0007239)
|
Congenital encephalopathy |
|
|
2317015
|
IBIS
|
2 / 7739
|
|
6
|
(HPO:0007371)
|
Corpus callosum atrophy |
|
|
2317015
|
IBIS
|
14 / 7739
|
|
7
|
(HPO:0008978)
|
Necrotizing myopathy |
|
|
2317015
|
IBIS
|
1 / 7739
|
|
8
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
2317015
|
IBIS
|
482 / 7739
|
|
9
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
2317015
|
IBIS
|
466 / 7739
|
|
10
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
2317015
|
IBIS
|
142 / 7739
|
|
11
|
(HPO:0002062)
|
Morphological abnormality of the pyramidal tract |
|
|
2317015
|
IBIS
|
24 / 7739
|
|
12
|
(HPO:0000759)
|
Abnormal peripheral nervous system morphology |
|
|
2317015
|
IBIS
|
4 / 7739
|