Symptom Information: Sort according to HPO 

1
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
2
 (HPO:0000505) Visual impairment Very frequent [Orphanet] 297 / 7739
3
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
4
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
5
 (HPO:0000708) Behavioral abnormality Frequent [Orphanet] 212 / 7739
6
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
7
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
8
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
9
 (HPO:0001939) Abnormality of metabolism/homeostasis Very frequent [Orphanet] 328 / 7739
10
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
11
 (HPO:0002066) Gait ataxia Frequent [Orphanet] 327 / 7739
12
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
13
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
14
 (HPO:0005930) Abnormality of epiphysis morphology Occasional [Orphanet] 119 / 7739
15
 (HPO:0008064) Ichthyosis Occasional [Orphanet] 108 / 7739
16
 (HPO:0010628) Facial palsy Occasional [Orphanet] 146 / 7739
17
 (HPO:0011675) Arrhythmia Occasional [Orphanet] 226 / 7739
18
 (HPO:0000271) Abnormality of the face Occasional [Orphanet] 108 / 7739
19
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
20
 (HPO:0000510) Rod-cone dystrophy Very frequent [Orphanet] 266 / 7739
21
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
22
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
23
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
24
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
25
 (HPO:0000504) Abnormality of vision Very frequent [Orphanet] 22 / 7739