|
1
|
(HPO:0000119)
|
Abnormality of the genitourinary system |
|
|
|
|
34 / 7739
|
|
2
|
(HPO:0000799)
|
Renal steatosis |
|
|
|
|
6 / 7739
|
|
3
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
7
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
8
|
(HPO:0001259)
|
Coma |
|
|
|
|
65 / 7739
|
|
9
|
(HPO:0001343)
|
Kernicterus |
|
|
|
|
4 / 7739
|
|
10
|
(HPO:0001397)
|
Hepatic steatosis |
|
|
|
|
75 / 7739
|
|
11
|
(HPO:0001892)
|
Abnormal bleeding |
|
|
|
|
85 / 7739
|
|
12
|
(HPO:0001943)
|
Hypoglycemia |
|
|
|
|
131 / 7739
|
|
13
|
(HPO:0002901)
|
Hypocalcemia |
|
|
|
|
56 / 7739
|
|
14
|
(HPO:0006693)
|
Myocardial steatosis |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
16
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
17
|
(OMIM)
|
Elevated tissue fatty acids and triglycerides |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Hepatosteatosis |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Hemorrhagic disorder |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
21
|
(HPO:0003811)
|
Neonatal death |
|
|
|
|
44 / 7739
|