1
|
(HPO:0000597)
|
Ophthalmoparesis |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
2
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
3
|
(HPO:0002354)
|
Memory impairment |
Occasional [Orphanet]
|
|
|
|
63 / 7739
|
4
|
(HPO:0001410)
|
Decreased liver function |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
5
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
6
|
(HPO:0001396)
|
Cholestasis |
Very frequent [Orphanet]
|
|
|
|
136 / 7739
|
7
|
(HPO:0001343)
|
Kernicterus |
|
|
|
|
4 / 7739
|
8
|
(OMIM)
|
Jaundice, congenital nonhemolytic |
|
|
|
|
1 / 7739
|
9
|
(OMIM)
|
Bilirubin encephalopathy |
|
|
|
|
1 / 7739
|
10
|
(OMIM)
|
Hyperbilirubinemia, unconjugated, 20-30mg/dl |
|
|
|
|
1 / 7739
|
11
|
(OMIM)
|
Absence of hepatic UDP-glucuronyl-transferase |
|
|
|
|
1 / 7739
|
12
|
(OMIM)
|
Normal liver histology |
|
|
|
|
1 / 7739
|
13
|
(MedDRA:10060106)
|
Liver function test normal |
|
|
|
|
2 / 7739
|
14
|
(HPO:0011442)
|
Abnormality of central motor function |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
15
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|