Symptom Information: Sort according to HPO 

1
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
2
 (HPO:0000488) Retinopathy Frequent [Orphanet] 75 / 7739
3
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
4
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
5
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
6
 (HPO:0000819) Diabetes mellitus Occasional [Orphanet] 131 / 7739
7
 (HPO:0000958) Dry skin Very frequent [Orphanet] 152 / 7739
8
 (HPO:0001315) Reduced tendon reflexes Occasional [Orphanet] 160 / 7739
9
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
10
 (HPO:0001646) Abnormality of the aortic valve Occasional [Orphanet] 55 / 7739
11
 (HPO:0002240) Hepatomegaly Frequent [Orphanet] 467 / 7739
12
 (HPO:0002066) Gait ataxia Occasional [Orphanet] 327 / 7739
13
 (HPO:0003119) Abnormality of lipid metabolism Very frequent [Orphanet] 60 / 7739
14
 (HPO:0003198) Myopathy Frequent [Orphanet] 151 / 7739
15
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
16
 (HPO:0003457) EMG abnormality Frequent [Orphanet] 78 / 7739
17
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
18
 (HPO:0006824) Cranial nerve paralysis Occasional [Orphanet] 81 / 7739
19
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
20
 (HPO:0001291) Abnormality of the cranial nerves Occasional [Orphanet] 27 / 7739
21
 (HPO:0001080) Biliary tract abnormality Very frequent [Orphanet] 26 / 7739
22
 (HPO:0010783) Erythema Frequent [Orphanet] 138 / 7739
23
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
24
 (HPO:0000510) Rod-cone dystrophy Frequent [Orphanet] 266 / 7739
25
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
26
 (HPO:0030089) Abnormal muscle fiber protein expression Frequent [Orphanet] 64 / 7739
27
 (HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
28
 (HPO:0006568) Increased hepatic glycogen content Frequent [Orphanet] 34 / 7739