|
1
|
(HPO:0000114)
|
Proximal tubulopathy |
rare [HPO:skoehler]
|
|
|
|
18 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000278)
|
Retrognathia |
rare [HPO:skoehler]
|
|
|
|
100 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0001403)
|
Macrovesicular hepatic steatosis |
rare [HPO:skoehler]
|
|
|
|
7 / 7739
|
|
7
|
(HPO:0001413)
|
Micronodular cirrhosis |
rare [HPO:skoehler]
|
|
|
|
11 / 7739
|
|
8
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
9
|
(HPO:0002028)
|
Chronic diarrhea |
rare [HPO:skoehler]
|
|
|
|
51 / 7739
|
|
10
|
(HPO:0002037)
|
Inflammation of the large intestine |
rare [HPO:skoehler]
|
|
|
|
25 / 7739
|
|
11
|
(HPO:0002240)
|
Hepatomegaly |
rare [HPO:skoehler]
|
|
|
|
467 / 7739
|
|
12
|
(HPO:0002719)
|
Recurrent infections |
rare [HPO:skoehler]
|
|
|
|
107 / 7739
|
|
13
|
(HPO:0002910)
|
Elevated hepatic transaminases |
rare [HPO:skoehler]
|
|
|
|
158 / 7739
|
|
14
|
(HPO:0004313)
|
Decreased antibody level in blood |
rare [HPO:skoehler]
|
|
|
|
47 / 7739
|
|
15
|
(HPO:0005435)
|
Impaired T cell function |
rare [HPO:skoehler]
|
|
|
|
9 / 7739
|
|
16
|
(HPO:0007185)
|
Loss of consciousness |
|
|
|
|
9 / 7739
|
|
17
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
rare [HPO:skoehler]
|
|
|
|
77 / 7739
|
|
18
|
(HPO:0012301)
|
Type II transferrin isoform profile |
|
|
|
|
6 / 7739
|
|
19
|
(HPO:0100259)
|
Postaxial polydactyly |
rare [HPO:skoehler]
|
|
|
|
85 / 7739
|
|
20
|
(OMIM)
|
Broad palpebral fissures (1 patient) |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Anal anteposition (1 patient) |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
23
|
(HPO:0001162)
|
Postaxial hand polydactyly |
|
|
|
|
119 / 7739
|
|
24
|
(OMIM)
|
Delayed psychomotor development, mild |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Intracranial bleeding |
|
|
|
|
4 / 7739
|
|
26
|
(OMIM)
|
Bleeding due to vitamin K deficiency (1 patient) |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Primary combined immunodeficiency (1 patient) |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0004432)
|
Agammaglobulinemia |
|
|
|
|
17 / 7739
|
|
29
|
(OMIM)
|
Granulocyte dysfunction (1 patient) |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
31
|
(HPO:0001522)
|
Death in infancy |
|
|
|
|
275 / 7739
|
|
32
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|