Symptom Information: Sort according to HPO 

1
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
2
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
3
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
4
 (HPO:0000771) Gynecomastia Occasional [Orphanet] 53 / 7739
5
 (HPO:0000786) Primary amenorrhea Frequent [Orphanet] 61 / 7739
6
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
7
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
8
 (HPO:0001324) Muscle weakness Occasional [Orphanet] 859 / 7739
9
 (HPO:0001288) Gait disturbance Occasional [Orphanet] 318 / 7739
10
 (HPO:0001337) Tremor Occasional [Orphanet] 200 / 7739
11
 (HPO:0001513) Obesity Occasional [Orphanet] 172 / 7739
12
 (HPO:0001608) Abnormality of the voice Frequent [Orphanet] 126 / 7739
13
 (HPO:0001761) Pes cavus Occasional [Orphanet] 225 / 7739
14
 (HPO:0001838) Rocker bottom foot Occasional [Orphanet] 85 / 7739
15
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
16
 (HPO:0002066) Gait ataxia Occasional [Orphanet] 327 / 7739
17
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
18
 (HPO:0002652) Skeletal dysplasia Occasional [Orphanet] 113 / 7739
19
 (HPO:0002750) Delayed skeletal maturation Occasional [Orphanet] 250 / 7739
20
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
21
 (HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
22
 (HPO:0004408) Abnormality of the sense of smell Very frequent [Orphanet] 28 / 7739
23
 (HPO:0008064) Ichthyosis Occasional [Orphanet] 108 / 7739
24
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
25
 (HPO:0009804) Reduced number of teeth Occasional [Orphanet] 137 / 7739
26
 (HPO:0100639) Erectile abnormalities Very frequent [Orphanet] 15 / 7739
27
 (HPO:0100783) Breast aplasia Frequent [Orphanet] 19 / 7739
28
 (HPO:0000130) Abnormality of the uterus Occasional [Orphanet] 86 / 7739
29
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
30
 (HPO:0000789) Infertility Very frequent [Orphanet] 74 / 7739
31
 (HPO:0008734) Decreased testicular size Very frequent [Orphanet] 105 / 7739
32
 (HPO:0000642) Red-green dyschromatopsia Occasional [Orphanet] 25 / 7739
33
 (HPO:0002659) Increased susceptibility to fractures Occasional [Orphanet] 110 / 7739
34
 (HPO:0000054) Micropenis Very frequent [Orphanet] 257 / 7739
35
 (HPO:0100022) Abnormality of movement Occasional [Orphanet] 129 / 7739
36
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
37
 (HPO:0000142) Abnormality of the vagina Occasional [Orphanet] 24 / 7739
38
 (HPO:0000858) Menstrual irregularities Occasional [Orphanet] 42 / 7739
39
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
40
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
41
 (HPO:0040075) Hypopituitarism Very frequent [Orphanet] 32 / 7739
42
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
43
 (HPO:0000028) Cryptorchidism 347 / 7739
44
 (HPO:0000044) Hypogonadotrophic hypogonadism 56 / 7739
45
 (HPO:0000175) Cleft palate 349 / 7739
46
 (HPO:0000204) Cleft upper lip 193 / 7739
47
 (HPO:0000453) Choanal atresia 76 / 7739
48
 (HPO:0000458) Anosmia 49 / 7739
49
 (HPO:0000612) Iris coloboma rare [HPO:skoehler] 116 / 7739
50
 (HPO:0000938) Osteopenia rare [HPO:skoehler] 138 / 7739
51
 (HPO:0001249) Intellectual disability 1089 / 7739
52
 (HPO:0001274) Agenesis of corpus callosum rare [HPO:skoehler] 142 / 7739
53
 (HPO:0001425) Heterogeneous 132 / 7739
54
 (HPO:0004322) Short stature 1232 / 7739
55
 (HPO:0030084) Clinodactyly rare [HPO:skoehler] 90 / 7739
56
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
57
 (HPO:0100257) Ectrodactyly rare [HPO:skoehler] 27 / 7739