|
1
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
2
|
(HPO:0100806)
|
Sepsis |
Frequent [Orphanet]
|
|
|
|
48 / 7739
|
|
3
|
(HPO:0000789)
|
Infertility |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
4
|
(HPO:0100626)
|
Chronic hepatic failure |
Very frequent [Orphanet]
|
|
|
|
7 / 7739
|
|
5
|
(HPO:0001337)
|
Tremor |
Frequent [Orphanet]
|
|
|
|
200 / 7739
|
|
6
|
(HPO:0002015)
|
Dysphagia |
Very frequent [Orphanet]
|
|
|
|
301 / 7739
|
|
7
|
(HPO:0002066)
|
Gait ataxia |
Occasional [Orphanet]
|
|
|
|
327 / 7739
|
|
8
|
(HPO:0001399)
|
Hepatic failure |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
9
|
(HPO:0001410)
|
Decreased liver function |
|
|
|
|
59 / 7739
|
|
10
|
(HPO:0001608)
|
Abnormality of the voice |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
11
|
(HPO:0001396)
|
Cholestasis |
Very frequent [Orphanet]
|
|
|
|
136 / 7739
|
|
12
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
13
|
(HPO:0001943)
|
Hypoglycemia |
Occasional [Orphanet]
|
|
|
|
131 / 7739
|
|
14
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
15
|
(HPO:0000815)
|
Hypergonadotropic hypogonadism |
|
|
|
|
48 / 7739
|
|
16
|
(HPO:0001394)
|
Cirrhosis |
|
|
|
|
102 / 7739
|
|
17
|
(HPO:0001878)
|
Hemolytic anemia |
|
|
|
|
83 / 7739
|
|
18
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
|
|
81 / 7739
|
|
19
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
20
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
21
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
22
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
23
|
(HPO:0003355)
|
Aminoaciduria |
|
|
|
|
65 / 7739
|
|
24
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
25
|
(HPO:0004372)
|
Reduced consciousness/confusion |
Very frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
26
|
(HPO:0004918)
|
Hyperchloremic metabolic acidosis |
|
|
|
|
6 / 7739
|
|
27
|
(HPO:0008209)
|
Premature ovarian failure |
|
|
|
|
28 / 7739
|
|
28
|
(HPO:0012023)
|
Galactosuria |
|
|
|
|
5 / 7739
|
|
29
|
(HPO:0012024)
|
Hypergalactosemia |
|
|
|
|
6 / 7739
|
|
30
|
(OMIM)
|
Decreased liver function, progressive |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Cirrhosis if untreated |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Ovarian failure due to hypergonadotropic hypogonadism |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Mental retardation if untreated |
|
|
|
|
5 / 7739
|
|
34
|
(OMIM)
|
Speech abnormality if untreated |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Galactose-1-phosphate uridyltransferase deficiency |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
In untreated patients - elevated blood galactose urine reducing substances (galactosuria), hyperchloremic metabolic acidosis, aminoaciduria, elevated liver enzymes, albuminuria |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
38
|
(HPO:0011420)
|
Death |
Occasional [Orphanet]
|
|
|
|
184 / 7739
|
|
39
|
(HPO:0100022)
|
Abnormality of movement |
Occasional [Orphanet]
|
|
|
|
129 / 7739
|
|
40
|
(HPO:0011442)
|
Abnormality of central motor function |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
41
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
42
|
(HPO:0000080)
|
Abnormality of reproductive system physiology |
Very frequent [Orphanet]
|
|
|
|
6 / 7739
|
|
43
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|