Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
2
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
3
 (HPO:0001182) Tapered finger Very frequent [Orphanet] 93 / 7739
4
 (HPO:0011968) Feeding difficulties 240 / 7739
5
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
6
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
7
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
8
 (HPO:0000356) Abnormality of the outer ear Very frequent [Orphanet] 85 / 7739
9
 (HPO:0000153) Abnormality of the mouth Very frequent [Orphanet] 60 / 7739
10
 (HPO:0002363) Abnormality of brainstem morphology Frequent [Orphanet] 14 / 7739
11
 (HPO:0000496) Abnormality of eye movement Very frequent [Orphanet] 79 / 7739
12
 (HPO:0000238) Hydrocephalus Frequent [Orphanet] 278 / 7739
13
 (HPO:0010741) Edema of the lower limbs Frequent [Orphanet] 34 / 7739
14
 (HPO:0000293) Full cheeks Very frequent [Orphanet] 85 / 7739
15
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
16
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
17
 (HPO:0003394) Muscle cramps Frequent [Orphanet] 106 / 7739
18
 (HPO:0002120) Cerebral cortical atrophy Very frequent [Orphanet] 187 / 7739
19
 (HPO:0001347) Hyperreflexia Very frequent [Orphanet] 363 / 7739
20
 (HPO:0002132) Porencephaly Frequent [Orphanet] 18 / 7739
21
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
22
 (HPO:0100540) Palpebral edema Frequent [Orphanet] 31 / 7739
23
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
24
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
25
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
26
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
27
 (HPO:0000194) Open mouth Very frequent [Orphanet] 70 / 7739
28
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
29
 (HPO:0002360) Sleep disturbance Very frequent [Orphanet] 113 / 7739
30
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
31
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
32
 (HPO:0010650) Hypoplasia of the premaxilla Very frequent [Orphanet] 39 / 7739
33
 (HPO:0000341) Narrow forehead Very frequent [Orphanet] 96 / 7739
34
 (HPO:0000253) Progressive microcephaly 37 / 7739
35
 (HPO:0000278) Retrognathia 100 / 7739
36
 (HPO:0000969) Edema 117 / 7739
37
 (HPO:0001155) Abnormality of the hand 54 / 7739
38
 (HPO:0001272) Cerebellar atrophy 197 / 7739
39
 (HPO:0002187) Intellectual disability, profound 44 / 7739
40
 (HPO:0002521) Hypsarrhythmia 43 / 7739
41
 (HPO:0002529) Neuronal loss in central nervous system 37 / 7739
42
 (HPO:0003469) Peripheral dysmyelination 3 / 7739
43
 (HPO:0006829) Severe muscular hypotonia 29 / 7739
44
 (HPO:0007281) Developmental stagnation 6 / 7739
45
 (HPO:0007965) Undetectable visual evoked potentials 3 / 7739
46
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
47
 (OMIM) 'Pear-shaped' face 2 / 7739
48
 (OMIM) Visual fixation absent from birth or lost in first months of life 2 / 7739
49
 (OMIM) Optic atrophy by 2 years of age 2 / 7739
50
 (OMIM) Curved upper lip 2 / 7739
51
 (HPO:0010804) Tented upper lip vermilion 47 / 7739
52
 (OMIM) Tapered digits 4 / 7739
53
 (HPO:0007514) Edema of the dorsum of hands 7 / 7739
54
 (HPO:0012398) Peripheral edema 12 / 7739
55
 (OMIM) Lack of developmental development 2 / 7739
56
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
57
 (OMIM) EEG shows hypsarrhythmia 4 / 7739
58
 (OMIM) Cerebellar atrophy, progressive 6 / 7739
59
 (OMIM) Brain stem atrophy, progressive 2 / 7739
60
 (OMIM) Absent cortical responses of somatosensory evoked potentials 2 / 7739
61
 (OMIM) MRI shows dysmyelination 2 / 7739
62
 (OMIM) Neuropathology shows severe neuronal loss in the inner granular layer of the cerebellum 2 / 7739
63
 (OMIM) Relative preservation of Purkinje cells, but they are deformed and disaligned 2 / 7739
64
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
65
 (HPO:0001522) Death in infancy Very frequent [Orphanet] 275 / 7739
66
 (HPO:0002803) Congenital contracture Occasional [Orphanet] 45 / 7739
67
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
68
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
69
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739
70
 (HPO:0000168) Abnormality of the gingiva Frequent [Orphanet] 51 / 7739
71
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
72
 (HPO:0000648) Optic atrophy 238 / 7739
73
 (HPO:0007105) Infantile encephalopathy 5 / 7739