|
1
|
(HPO:0000100)
|
Nephrotic syndrome |
rare [HPO:skoehler]
|
|
|
|
83 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
rare [HPO:skoehler]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000496)
|
Abnormality of eye movement |
rare [HPO:skoehler]
|
|
|
|
79 / 7739
|
|
4
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
|
5
|
(HPO:0001047)
|
Atopic dermatitis |
|
|
|
|
20 / 7739
|
|
6
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
7
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
8
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
9
|
(HPO:0001285)
|
Spastic tetraparesis |
|
|
|
|
29 / 7739
|
|
10
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
11
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|
|
12
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
13
|
(HPO:0001744)
|
Splenomegaly |
rare [HPO:skoehler]
|
|
|
|
337 / 7739
|
|
14
|
(HPO:0001873)
|
Thrombocytopenia |
rare [HPO:skoehler]
|
|
|
|
224 / 7739
|
|
15
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
16
|
(HPO:0002135)
|
Basal ganglia calcification |
|
|
|
|
37 / 7739
|
|
17
|
(HPO:0002240)
|
Hepatomegaly |
rare [HPO:skoehler]
|
|
|
|
467 / 7739
|
|
18
|
(HPO:0002376)
|
Developmental regression |
rare [HPO:skoehler]
|
|
|
|
74 / 7739
|
|
19
|
(HPO:0002633)
|
Vasculitis |
|
|
|
|
12 / 7739
|
|
20
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
21
|
(HPO:0010702)
|
Increased antibody level in blood |
rare [HPO:skoehler]
|
|
|
|
29 / 7739
|
|
22
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|