|
1
|
(HPO:0000252)
|
Microcephaly |
rare [HPO:skoehler]
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000639)
|
Nystagmus |
rare [HPO:skoehler]
|
|
|
|
555 / 7739
|
|
3
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
6
|
(HPO:0001394)
|
Cirrhosis |
rare [HPO:skoehler]
|
|
|
|
102 / 7739
|
|
7
|
(HPO:0001399)
|
Hepatic failure |
rare [HPO:skoehler]
|
|
|
|
80 / 7739
|
|
8
|
(HPO:0001508)
|
Failure to thrive |
rare [HPO:skoehler]
|
|
|
|
454 / 7739
|
|
9
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
10
|
(HPO:0001744)
|
Splenomegaly |
rare [HPO:skoehler]
|
|
|
|
337 / 7739
|
|
11
|
(HPO:0001999)
|
Abnormal facial shape |
rare [HPO:skoehler]
|
|
|
|
169 / 7739
|
|
12
|
(HPO:0002028)
|
Chronic diarrhea |
rare [HPO:skoehler]
|
|
|
|
51 / 7739
|
|
13
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
14
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
rare [HPO:skoehler]
|
|
|
|
161 / 7739
|
|
15
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
16
|
(HPO:0002240)
|
Hepatomegaly |
rare [HPO:skoehler]
|
|
|
|
467 / 7739
|
|
17
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
18
|
(HPO:0003155)
|
Elevated alkaline phosphatase |
|
|
|
|
52 / 7739
|
|
19
|
(HPO:0004798)
|
Recurrent infection of the gastrointestinal tract |
rare [HPO:skoehler]
|
|
|
|
9 / 7739
|
|
20
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
21
|
(HPO:0011968)
|
Feeding difficulties |
rare [HPO:skoehler]
|
|
|
|
240 / 7739
|
|
22
|
(HPO:0100874)
|
Thick hair |
rare [HPO:skoehler]
|
|
|
|
7 / 7739
|
|
23
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
24
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
25
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
26
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
27
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
28
|
(OMIM)
|
Delayed psychomotor development, moderate to severe |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Lack of speech |
|
|
|
|
17 / 7739
|
|
30
|
(OMIM)
|
Peripheral hypertonia |
|
|
|
|
4 / 7739
|
|
31
|
(OMIM)
|
Uncoordinated movements |
|
|
|
|
4 / 7739
|
|
32
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
33
|
(MedDRA:10009736)
|
Coagulation factor decreased |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Serum transferrin isoelectric focusing shows type 2 pattern |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Sialylation defects |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Galactosylation defects |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Impaired N-glycosylation |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Impaired O-glycosylation |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Some fragmented or disrupted Golgi |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
41
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|