Symptom Information: Sort according to HPO 

1
(HPO:0000252) Microcephaly 832 / 7739
2
(HPO:0000280) Coarse facial features 189 / 7739
3
(HPO:0000505) Visual impairment 297 / 7739
4
(HPO:0001250) Seizures 1245 / 7739
5
(HPO:0001508) Failure to thrive 454 / 7739
6
(HPO:0002283) Global brain atrophy 12 / 7739
7
(HPO:0002313) Spastic paraparesis 33 / 7739
8
(HPO:0002353) EEG abnormality 188 / 7739
9
(HPO:0002751) Kyphoscoliosis 131 / 7739
10
(HPO:0005876) Progressive flexion contractures 4 / 7739
11
(HPO:0007371) Corpus callosum atrophy 14 / 7739
12
(HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
13
(OMIM) Horizontal or rotary nystagmus 1 / 7739
14
(OMIM) Pale fundi 1 / 7739
15
(OMIM) Slow pupillary reflexes 1 / 7739
16
(OMIM) Atrophy of the lower limbs 1 / 7739
17
(HPO:0011344) Severe global developmental delay 46 / 7739
18
(OMIM) No speech acquisition 1 / 7739
19
(HPO:0007256) Abnormal pyramidal signs 116 / 7739
20
(HPO:0001327) Photomyoclonic seizures 125 / 7739
21
(OMIM) Brain MRI shows arrest in myelination 1 / 7739
22
(OMIM) Decreased N-acetylaspartate 1 / 7739