1
|
(HPO:0000253)
|
Progressive microcephaly |
|
|
|
|
37 / 7739
|
2
|
(HPO:0000556)
|
Retinal dystrophy |
rare [HPO:skoehler]
|
|
|
|
65 / 7739
|
3
|
(HPO:0001135)
|
Chorioretinal dystrophy |
|
|
|
|
18 / 7739
|
4
|
(HPO:0007731)
|
Chorioretinal dysplasia |
|
|
|
|
16 / 7739
|
5
|
(HPO:0007973)
|
Retinal dysplasia |
|
|
|
|
27 / 7739
|
6
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
7
|
(HPO:0000657)
|
Oculomotor apraxia |
|
|
|
|
54 / 7739
|
8
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
9
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
10
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
11
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
12
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
13
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
14
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
15
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
16
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
17
|
(HPO:0002421)
|
Poor head control |
|
|
|
|
23 / 7739
|
18
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
19
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
20
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
21
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
22
|
(OMIM)
|
Poor growth, postnatal |
|
|
|
|
8 / 7739
|
23
|
(OMIM)
|
Poor visual attention |
|
|
|
|
1 / 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)
|
EMG shows neurogenic changes |
|
|
|
|
5 / 7739
|
29
|
(OMIM)
|
Global developmental delay, profound |
|
|
|
|
2 / 7739
|
30
|
(OMIM)
|
Lack of motor milestones |
|
|
|
|
1 / 7739
|
31
|
(OMIM)
|
Lack of speech |
|
|
|
|
17 / 7739
|
32
|
(OMIM)
|
Loss of cerebellar Purkinje cells |
|
|
|
|
2 / 7739
|
33
|
(OMIM)
|
Loss of cerebellar granular cells |
|
|
|
|
1 / 7739
|
34
|
(OMIM)
|
Loss of motor neurons in the spinal cord |
|
|
|
|
2 / 7739
|
35
|
(HPO:0007002)
|
Motor axonal neuropathy |
|
|
|
|
17 / 7739
|
36
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
37
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
38
|
(HPO:0001308)
|
Tongue fasciculations |
|
|
|
|
18 / 7739
|
39
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|
40
|
(HPO:0002350)
|
Cerebellar cyst |
|
|
|
|
14 / 7739
|
41
|
(HPO:0012473)
|
Tongue atrophy |
|
|
|
|
8 / 7739
|