Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
2
 (HPO:0001320) Cerebellar vermis hypoplasia Frequent [Orphanet] typical [HPO] 57 / 7739
3
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
4
 (HPO:0002335) Agenesis of cerebellar vermis Frequent [Orphanet] typical [HPO] 25 / 7739
5
 (HPO:0006817) Aplasia/Hypoplasia of the cerebellar vermis Frequent [Orphanet] typical [HPO] 15 / 7739
6
 (HPO:0007360) Aplasia/Hypoplasia of the cerebellum Frequent [Orphanet] 10 / 7739
7
 (HPO:0000112) Nephropathy Frequent [Orphanet] 92 / 7739
8
 (HPO:0000100) Nephrotic syndrome Frequent [Orphanet] 83 / 7739
9
 (HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739
10
 (HPO:0001634) Mitral valve prolapse Frequent [Orphanet] 69 / 7739
11
 (HPO:0001653) Mitral regurgitation Frequent [Orphanet] 64 / 7739
12
 (HPO:0011572) Supramitral ring Frequent [Orphanet] 3 / 7739
13
 (HPO:0000822) Hypertension Frequent [Orphanet] 224 / 7739
14
 (HPO:0001337) Tremor Frequent [Orphanet] 200 / 7739
15
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
16
 (HPO:0100545) Arterial stenosis Frequent [Orphanet] 22 / 7739
17
 (HPO:0001257) Spasticity Frequent [Orphanet] 251 / 7739
18
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
19
 (HPO:0002063) Rigidity Frequent [Orphanet] 92 / 7739
20
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
21
 (HPO:0002121) Absence seizures Very frequent [Orphanet] 62 / 7739
22
 (HPO:0002133) Status epilepticus Very frequent [Orphanet] 59 / 7739
23
 (HPO:0011097) Epileptic spasms Very frequent [Orphanet] 45 / 7739
24
 (HPO:0011147) Typical absence seizures Very frequent [Orphanet] 33 / 7739
25
 (HPO:0003287) Abnormality of mitochondrial metabolism Very frequent [Orphanet] 12 / 7739
26
 (HPO:0002938) Lumbar hyperlordosis Frequent [Orphanet] typical [HPO] 73 / 7739
27
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
28
 (HPO:0003510) Severe short stature Very frequent [Orphanet] 90 / 7739
29
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
30
 (HPO:0100651) Type I diabetes mellitus Very frequent [Orphanet] 44 / 7739
31
 (HPO:0000093) Proteinuria Frequent [Orphanet] 169 / 7739
32
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
33
 (HPO:0008527) Congenital sensorineural hearing impairment Very frequent [Orphanet] hallmark [HPO] 165 / 7739
34
 (HPO:0008625) Severe sensorineural hearing impairment Very frequent [Orphanet] hallmark [HPO] 150 / 7739
35
 (HPO:0002621) Atherosclerosis Very frequent [Orphanet] 33 / 7739
36
 (HPO:0004416) Precocious atherosclerosis Very frequent [Orphanet] 12 / 7739
37
 (HPO:0005177) Premature arteriosclerosis Very frequent [Orphanet] 7 / 7739
38
 (HPO:0000726) Dementia Very frequent [Orphanet] 131 / 7739
39
 (HPO:0001268) Mental deterioration Very frequent [Orphanet] hallmark [HPO] 88 / 7739
40
 (HPO:0002361) Psychomotor deterioration Very frequent [Orphanet] hallmark [HPO] 26 / 7739
41
 (HPO:0002376) Developmental regression Very frequent [Orphanet] 74 / 7739
42
 (HPO:0000028) Cryptorchidism Frequent [Orphanet] 347 / 7739
43
 (HPO:0008689) Bilateral cryptorchidism Frequent [Orphanet] typical [HPO] 38 / 7739
44
 (HPO:0012646) Retractile testis Frequent [Orphanet] 8 / 7739
45
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
46
 (HPO:0100308) Cerebral cortical hemiatrophy Frequent [Orphanet] 7 / 7739
47
 (HPO:0000819) Diabetes mellitus 131 / 7739
48
 (HPO:0001317) Abnormality of the cerebellum 36 / 7739
49
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
50
 (HPO:0001376) Limitation of joint mobility Frequent [Orphanet] 27 / 7739
51
 (HPO:0001633) Abnormality of the mitral valve Frequent [Orphanet] 69 / 7739
52
 (HPO:0001920) Renal artery stenosis 5 / 7739
53
 (HPO:0004929) Coronary atherosclerosis 4 / 7739
54
 (HPO:0007201) Cerebral artery atherosclerosis 1 / 7739
55
 (OMIM) Cognitive function loss 1 / 7739
56
 (OMIM) Aortic and coronary atherosclerosis 1 / 7739