|
1
|
(HPO:0000483)
|
Astigmatism |
|
|
|
|
67 / 7739
|
|
2
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
|
3
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
4
|
(HPO:0000565)
|
Esotropia |
|
|
|
|
58 / 7739
|
|
5
|
(HPO:0000639)
|
Nystagmus |
rare [HPO:skoehler]
|
|
|
|
555 / 7739
|
|
6
|
(HPO:0000998)
|
Hypertrichosis |
rare [HPO:skoehler]
|
|
|
|
52 / 7739
|
|
7
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
|
8
|
(HPO:0002230)
|
Generalized hirsutism |
|
|
|
|
32 / 7739
|
|
9
|
(HPO:0004554)
|
Generalized hypertrichosis |
|
|
|
|
30 / 7739
|
|
10
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
11
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
12
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
13
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
14
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
15
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
16
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
17
|
(HPO:0002015)
|
Dysphagia |
rare [HPO:skoehler]
|
|
|
|
301 / 7739
|
|
18
|
(HPO:0002020)
|
Gastroesophageal reflux |
rare [HPO:skoehler]
|
|
|
|
101 / 7739
|
|
19
|
(HPO:0002072)
|
Chorea |
|
|
|
|
53 / 7739
|
|
20
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
21
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
|
|
41 / 7739
|
|
22
|
(HPO:0002465)
|
Poor speech |
|
|
|
|
31 / 7739
|
|
23
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
24
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
rare [HPO:skoehler]
|
|
|
|
93 / 7739
|
|
25
|
(HPO:0005684)
|
Distal arthrogryposis |
|
|
|
|
31 / 7739
|
|
26
|
(HPO:0004684)
|
Talipes valgus |
|
|
|
|
28 / 7739
|
|
27
|
(HPO:0005484)
|
Postnatal microcephaly |
|
|
|
|
32 / 7739
|
|
28
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
29
|
(HPO:0100704)
|
Cortical visual impairment |
rare [HPO:skoehler]
|
|
|
|
28 / 7739
|
|
30
|
(OMIM)
|
Poor growth, postnatal |
|
|
|
|
8 / 7739
|
|
31
|
(OMIM)
|
Dysmorphic features |
|
|
|
|
6 / 7739
|
|
32
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
33
|
(OMIM)
|
Poor visual tracking (in some patients) |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
|
35
|
(OMIM)
|
Claw feet |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
37
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
38
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
39
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
40
|
(OMIM)
|
Delayed psychomotor development, severe |
|
|
|
|
14 / 7739
|
|
41
|
(OMIM)
|
Lack of speech |
|
|
|
|
17 / 7739
|
|
42
|
(OMIM)
|
Lack of independent walking (in some patients) |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Spasticity, usually of the lower limbs |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Involuntary repetitive movements |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Brain MRI shows cerebellar hypoplasia |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Relative preservation of the cerebellar folia |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Reduced cerebral white matter |
|
|
|
|
1 / 7739
|
|
48
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|