Symptom Information: Sort according to HPO 

1
 (HPO:0003202) Skeletal muscle atrophy Occasional [Orphanet] 281 / 7739
2
 (HPO:0000597) Ophthalmoparesis Occasional [Orphanet] 71 / 7739
3
 (HPO:0002149) Hyperuricemia Very frequent [Orphanet] 26089585 IBIS 37 / 7739
4
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
5
 (HPO:0001324) Muscle weakness 859 / 7739
6
 (HPO:0000822) Hypertension Occasional [Orphanet] 224 / 7739
7
 (HPO:0000083) Renal insufficiency Frequent [Orphanet] 232 / 7739
8
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
9
 (HPO:0001251) Ataxia 26089585 IBIS 413 / 7739
10
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
11
 (HPO:0002311) Incoordination 84 / 7739
12
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 26089585 IBIS 524 / 7739
13
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
14
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
15
 (HPO:0001249) Intellectual disability 1089 / 7739
16
 (HPO:0001270) Motor delay 322 / 7739
17
 (HPO:0000791) Uric acid nephrolithiasis 4 / 7739
18
 (HPO:0001997) Gout 26089585 IBIS 18 / 7739
19
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
20
 (HPO:0003149) Hyperuricosuria 26089585 IBIS 7 / 7739
21
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
22
 (HPO:0010547) Muscle flaccidity 466 / 7739
23
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
24
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
25
 (HPO:0011025) Abnormality of cardiovascular system physiology Occasional [Orphanet] 41 / 7739
26
 (HPO:0012303) Abnormality of the aortic arch Frequent [Orphanet] 57 / 7739
27
 (HPO:0003142) Excessive purine production 26089585 IBIS 1 / 7739
28
 (MedDRA:10011509) Crystalluria 26089585 IBIS 1 / 7739
29
 (HPO:0012759) Neurodevelopmental abnormality 26089585 IBIS 2 / 7739
30
 (HPO:0001290) Generalized hypotonia 26089585 IBIS 51 / 7739