Symptom Information: Sort according to HPO 

1
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 232 / 7739
2
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
3
 (HPO:0000488) Retinopathy Very frequent [Orphanet] 75 / 7739
4
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
5
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
6
 (HPO:0000615) Abnormality of the pupil Frequent [Orphanet] 39 / 7739
7
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
8
 (HPO:0000958) Dry skin Very frequent [Orphanet] 152 / 7739
9
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
10
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
11
 (HPO:0001744) Splenomegaly Frequent [Orphanet] 337 / 7739
12
 (HPO:0001761) Pes cavus Occasional [Orphanet] 225 / 7739
13
 (HPO:0001939) Abnormality of metabolism/homeostasis Very frequent [Orphanet] 328 / 7739
14
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
15
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
16
 (HPO:0001251) Ataxia 413 / 7739
17
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
18
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
19
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
20
 (HPO:0004374) Hemiplegia/hemiparesis Very frequent [Orphanet] 158 / 7739
21
 (HPO:0004408) Abnormality of the sense of smell Very frequent [Orphanet] 28 / 7739
22
 (HPO:0005930) Abnormality of epiphysis morphology Frequent [Orphanet] 119 / 7739
23
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
24
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
25
 (HPO:0009830) Peripheral neuropathy Very frequent [Orphanet] 206 / 7739
26
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
27
 (HPO:0001760) Abnormality of the foot Very frequent [Orphanet] 96 / 7739
28
 (HPO:0000496) Abnormality of eye movement Frequent [Orphanet] 79 / 7739
29
 (HPO:0000478) Abnormality of the eye Very frequent [Orphanet] 126 / 7739
30
 (HPO:0007256) Abnormal pyramidal signs Very frequent [Orphanet] 116 / 7739
31
 (HPO:0000598) Abnormality of the ear Very frequent [Orphanet] 98 / 7739
32
 (HPO:0000510) Rod-cone dystrophy Very frequent [Orphanet] 266 / 7739
33
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
34
 (HPO:0100543) Cognitive impairment Frequent [Orphanet] 230 / 7739
35
 (HPO:0011025) Abnormality of cardiovascular system physiology Occasional [Orphanet] 41 / 7739
36
 (HPO:0006568) Increased hepatic glycogen content Frequent [Orphanet] 34 / 7739
37
 (HPO:0010161) Abnormality of the phalanges of the toes Frequent [Orphanet] 3 / 7739
38
 (HPO:0001638) Cardiomyopathy Very frequent [Orphanet] 192 / 7739
39
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
40
 (HPO:0000458) Anosmia 49 / 7739
41
 (HPO:0000546) Retinal degeneration 61 / 7739
42
 (HPO:0000616) Miosis 11 / 7739
43
 (HPO:0000662) Nyctalopia 92 / 7739
44
 (HPO:0001265) Hyporeflexia 208 / 7739
45
 (HPO:0001635) Congestive heart failure 232 / 7739
46
 (HPO:0001640) Cardiomegaly 81 / 7739
47
 (HPO:0002654) Multiple epiphyseal dysplasia 8 / 7739
48
 (HPO:0002922) Increased CSF protein 27 / 7739
49
 (HPO:0003474) Sensory impairment 54 / 7739
50
 (HPO:0003690) Limb muscle weakness 41 / 7739
51
 (HPO:0004689) Short fourth metatarsal 9 / 7739
52
 (HPO:0007141) Sensorimotor neuropathy 27 / 7739
53
 (HPO:0010571) Elevated levels of phytanic acid 3 / 7739
54
 (HPO:0011675) Arrhythmia 226 / 7739
55
 (HPO:0012211) Abnormal renal physiology rare [HPO:skoehler] 23 / 7739