|
1
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
2
|
(HPO:0000062)
|
Ambiguous genitalia |
rare [HPO:skoehler]
|
|
|
|
74 / 7739
|
|
3
|
(HPO:0000090)
|
Nephronophthisis |
rare [HPO:skoehler]
|
|
|
|
42 / 7739
|
|
4
|
(HPO:0000488)
|
Retinopathy |
rare [HPO:skoehler]
|
|
|
|
75 / 7739
|
|
5
|
(HPO:0000657)
|
Oculomotor apraxia |
variable [HPO:skoehler]
|
|
|
|
54 / 7739
|
|
6
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
9
|
(HPO:0002419)
|
Molar tooth sign on MRI |
|
|
|
|
27 / 7739
|
|
10
|
(HPO:0010442)
|
Polydactyly |
variable [HPO:skoehler]
|
|
|
|
69 / 7739
|
|
11
|
(MedDRA:10006334)
|
Breathing abnormalities |
|
|
|
|
3 / 7739
|
|
12
|
(OMIM)
|
Liver abnormalities, mild (1 patient) |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
|
|
|
|
75 / 7739
|
|
14
|
(HPO:0000800)
|
Cystic renal dysplasia |
|
|
|
|
31 / 7739
|
|
15
|
(HPO:0001161)
|
Hand polydactyly |
|
|
|
|
71 / 7739
|
|
16
|
(HPO:0001829)
|
Foot polydactyly |
|
|
|
|
41 / 7739
|
|
17
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
18
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
19
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
20
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
22
|
(HPO:0000556)
|
Retinal dystrophy |
rare [HPO:skoehler]
|
|
|
|
65 / 7739
|