|
1
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
|
2
|
(HPO:0000597)
|
Ophthalmoparesis |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0002141)
|
Gait imbalance |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
|
6
|
(HPO:0002354)
|
Memory impairment |
Occasional [Orphanet]
|
|
|
|
63 / 7739
|
|
7
|
(HPO:0002383)
|
Encephalitis |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
|
8
|
(HPO:0004372)
|
Reduced consciousness/confusion |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
|
9
|
(HPO:0001410)
|
Decreased liver function |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
10
|
(HPO:0001396)
|
Cholestasis |
Very frequent [Orphanet]
|
|
|
|
136 / 7739
|
|
11
|
(HPO:0011442)
|
Abnormality of central motor function |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
|
12
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
13
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
14
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
15
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
16
|
(HPO:0001298)
|
Encephalopathy |
|
|
|
|
72 / 7739
|
|
17
|
(HPO:0001343)
|
Kernicterus |
|
|
|
|
4 / 7739
|
|
18
|
(HPO:0008282)
|
Unconjugated hyperbilirubinemia |
|
|
|
|
9 / 7739
|