Symptom Information: Sort according to HPO 

1
(HPO:0000028) Cryptorchidism 347 / 7739
2
(HPO:0000054) Micropenis 257 / 7739
3
(HPO:0000083) Renal insufficiency 232 / 7739
4
(HPO:0000093) Proteinuria 169 / 7739
5
(HPO:0000252) Microcephaly 832 / 7739
6
(HPO:0000292) Loss of facial adipose tissue 6 / 7739
7
(HPO:0000303) Mandibular prognathia 179 / 7739
8
(HPO:0000377) Abnormality of the pinna 111 / 7739
9
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
10
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
11
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
12
(HPO:0000417) Slender nose 5 / 7739
13
(HPO:0000482) Microcornea 102 / 7739
14
(HPO:0000486) Strabismus 576 / 7739
15
(HPO:0000518) Cataract 454 / 7739
16
(HPO:0000540) Hypermetropia 99 / 7739
17
(HPO:0000568) Microphthalmia 183 / 7739
18
(HPO:0000580) Pigmentary retinopathy 49 / 7739
19
(HPO:0000633) Decreased lacrimation 6 / 7739
20
(HPO:0000639) Nystagmus 555 / 7739
21
(HPO:0000648) Optic atrophy 238 / 7739
22
(HPO:0000670) Carious teeth 145 / 7739
23
(HPO:0000680) Delayed eruption of primary teeth 10 / 7739
24
(HPO:0000689) Dental malocclusion 114 / 7739
25
(HPO:0000762) Decreased nerve conduction velocity 36 / 7739
26
(HPO:0000822) Hypertension 224 / 7739
27
(HPO:0000939) Osteoporosis 129 / 7739
28
(HPO:0000958) Dry skin 152 / 7739
29
(HPO:0000970) Anhidrosis 24 / 7739
30
(HPO:0000992) Cutaneous photosensitivity 75 / 7739
31
(HPO:0001000) Abnormality of skin pigmentation 105 / 7739
32
(HPO:0001249) Intellectual disability 1089 / 7739
33
(HPO:0001250) Seizures 1245 / 7739
34
(HPO:0001251) Ataxia 413 / 7739
35
(HPO:0001324) Muscle weakness 859 / 7739
36
(HPO:0001337) Tremor 200 / 7739
37
(HPO:0001511) Intrauterine growth retardation 358 / 7739
38
(HPO:0001518) Small for gestational age 107 / 7739
39
(HPO:0001525) Severe failure to thrive 13 / 7739
40
(HPO:0001744) Splenomegaly 337 / 7739
41
(HPO:0002059) Cerebral atrophy 171 / 7739
42
(HPO:0002135) Basal ganglia calcification 37 / 7739
43
(HPO:0002240) Hepatomegaly 467 / 7739
44
(HPO:0002343) Normal pressure hydrocephalus 6 / 7739
45
(HPO:0002545) Patchy demyelination of subcortical white matter 3 / 7739
46
(HPO:0002684) Thickened calvaria 32 / 7739
47
(HPO:0002808) Kyphosis 289 / 7739
48
(HPO:0002866) Hypoplastic iliac wing 34 / 7739
49
(HPO:0003224) Increased cellular sensitivity to UV light 8 / 7739
50
(HPO:0003758) Reduced subcutaneous adipose tissue 27 / 7739
51
(HPO:0005328) Progeroid facial appearance 13 / 7739
52
(HPO:0007346) Subcortical white matter calcifications 2 / 7739
53
(HPO:0007352) Cerebellar calcifications 2 / 7739
54
(HPO:0007676) Hypoplasia of the iris 22 / 7739
55
(HPO:0007957) Corneal opacity 84 / 7739
56
(HPO:0008897) Postnatal growth retardation 113 / 7739
57
(HPO:0010234) Ivory epiphyses of the phalanges of the hand 3 / 7739
58
(HPO:0011675) Arrhythmia 226 / 7739
59
(OMIM) Cachectic dwarfism 2 / 7739
60
(OMIM) Absent/hypoplastic teeth 2 / 7739
61
(OMIM) Vertebral body abnormalities 3 / 7739
62
(OMIM) Intervertebral calcifications 1 / 7739
63
(OMIM) Small, squared off pelvis 2 / 7739
64
(OMIM) Mild to moderate joint limitation 2 / 7739
65
(HPO:0007495) Prematurely aged appearance 44 / 7739
66
(HPO:0100699) Scarring 9 / 7739
67
(MedDRA:10003694) Atrophy 7 / 7739
68
(OMIM) Thin, dry hair 2 / 7739
69
(OMIM) Poor-absent neurologic development 1 / 7739
70
(MedDRA:10067601) Dysmyelination 5 / 7739
71
(HPO:0009830) Peripheral neuropathy 206 / 7739
72
(OMIM) Abnormal myelination in sural nerve biopsies 3 / 7739
73
(OMIM) Disturbed visual and brainstem auditory evoked responses indicative of CNS demyelination 3 / 7739