|
1
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
3
|
(HPO:0001321)
|
Cerebellar hypoplasia |
rare [HPO:skoehler]
|
|
|
|
114 / 7739
|
|
4
|
(HPO:0001511)
|
Intrauterine growth retardation |
rare [HPO:skoehler]
|
|
|
|
358 / 7739
|
|
5
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
rare [HPO:skoehler]
|
|
|
|
137 / 7739
|
|
6
|
(HPO:0001643)
|
Patent ductus arteriosus |
rare [HPO:skoehler]
|
|
|
|
228 / 7739
|
|
7
|
(HPO:0001662)
|
Bradycardia |
rare [HPO:skoehler]
|
|
|
|
41 / 7739
|
|
8
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
9
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
10
|
(HPO:0002151)
|
Increased serum lactate |
|
|
|
|
92 / 7739
|
|
11
|
(HPO:0002650)
|
Scoliosis |
rare [HPO:skoehler]
|
|
|
|
705 / 7739
|
|
12
|
(HPO:0200134)
|
Epileptic encephalopathy |
rare [HPO:skoehler]
|
|
|
|
42 / 7739
|