|
1
|
(HPO:0000194)
|
Open mouth |
|
|
|
|
70 / 7739
|
|
2
|
(HPO:0000253)
|
Progressive microcephaly |
|
|
|
|
37 / 7739
|
|
3
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
4
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
5
|
(HPO:0000293)
|
Full cheeks |
|
|
|
|
85 / 7739
|
|
6
|
(HPO:0000341)
|
Narrow forehead |
|
|
|
|
96 / 7739
|
|
7
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
8
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
9
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
|
|
44 / 7739
|
|
10
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
11
|
(HPO:0006829)
|
Severe muscular hypotonia |
|
|
|
|
29 / 7739
|
|
12
|
(HPO:0007965)
|
Undetectable visual evoked potentials |
|
|
|
|
3 / 7739
|
|
13
|
(HPO:0010741)
|
Edema of the lower limbs |
|
|
|
|
34 / 7739
|
|
14
|
(OMIM)
|
'Pear-shaped' face |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Visual fixation absent from birth or lost in first months of life |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Optic atrophy by 2 years of age |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Curved upper lip |
|
|
|
|
2 / 7739
|
|
18
|
(HPO:0010804)
|
Tented upper lip vermilion |
|
|
|
|
47 / 7739
|
|
19
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
20
|
(OMIM)
|
Tapered digits |
|
|
|
|
4 / 7739
|
|
21
|
(HPO:0007514)
|
Edema of the dorsum of hands |
|
|
|
|
7 / 7739
|
|
22
|
(HPO:0012398)
|
Peripheral edema |
|
|
|
|
12 / 7739
|
|
23
|
(OMIM)
|
Lack of developmental development |
|
|
|
|
2 / 7739
|
|
24
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
25
|
(OMIM)
|
EEG shows hypsarrhythmia |
|
|
|
|
4 / 7739
|
|
26
|
(OMIM)
|
Cerebellar atrophy, progressive |
|
|
|
|
6 / 7739
|
|
27
|
(OMIM)
|
Brain stem atrophy, progressive |
|
|
|
|
2 / 7739
|
|
28
|
(OMIM)
|
Absent cortical responses of somatosensory evoked potentials |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
MRI shows dysmyelination |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Neuropathology shows severe neuronal loss in the inner granular layer of the cerebellum |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
Relative preservation of Purkinje cells, but they are deformed and disaligned |
|
|
|
|
2 / 7739
|