Symptom Information: Sort according to HPO 

1
 (HPO:0000100) Nephrotic syndrome Occasional [Orphanet] 83 / 7739
2
 (HPO:0000202) Oral cleft Occasional [Orphanet] 120 / 7739
3
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
4
 (HPO:0000366) Abnormality of the nose Very frequent [Orphanet] 56 / 7739
5
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
6
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
7
 (HPO:0000488) Retinopathy Very frequent [Orphanet] 75 / 7739
8
 (HPO:0000490) Deeply set eye Very frequent [Orphanet] 131 / 7739
9
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
10
 (HPO:0000670) Carious teeth Very frequent [Orphanet] 145 / 7739
11
 (HPO:0000684) Delayed eruption of teeth Occasional [Orphanet] 117 / 7739
12
 (HPO:0000689) Dental malocclusion Frequent [Orphanet] 114 / 7739
13
 (HPO:0000822) Hypertension Frequent [Orphanet] 224 / 7739
14
 (HPO:0000926) Platyspondyly Occasional [Orphanet] 150 / 7739
15
 (HPO:0000987) Atypical scarring of skin Frequent [Orphanet] 58 / 7739
16
 (HPO:0000992) Cutaneous photosensitivity Very frequent [Orphanet] 75 / 7739
17
 (HPO:0001176) Large hands Frequent [Orphanet] 43 / 7739
18
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
19
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
20
 (HPO:0001337) Tremor Frequent [Orphanet] 200 / 7739
21
 (HPO:0001347) Hyperreflexia Very frequent [Orphanet] 363 / 7739
22
 (HPO:0001519) Disproportionate tall stature Frequent [Orphanet] 39 / 7739
23
 (HPO:0001760) Abnormality of the foot Frequent [Orphanet] 96 / 7739
24
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
25
 (HPO:0002213) Fine hair Frequent [Orphanet] 77 / 7739
26
 (HPO:0001251) Ataxia 413 / 7739
27
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
28
 (HPO:0002353) EEG abnormality Frequent [Orphanet] 188 / 7739
29
 (HPO:0002514) Cerebral calcification Frequent [Orphanet] 89 / 7739
30
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
31
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
32
 (HPO:0000953) Hyperpigmentation of the skin Frequent [Orphanet] 75 / 7739
33
 (HPO:0007495) Prematurely aged appearance Very frequent [Orphanet] 44 / 7739
34
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
35
 (HPO:0008065) Aplasia/Hypoplasia of the skin Frequent [Orphanet] 81 / 7739
36
 (HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
37
 (HPO:0009830) Peripheral neuropathy Very frequent [Orphanet] 206 / 7739
38
 (HPO:0100585) Telangiectasia of the skin Occasional [Orphanet] 66 / 7739
39
 (HPO:0100783) Breast aplasia Occasional [Orphanet] 19 / 7739
40
 (HPO:0100820) Glomerulopathy Occasional [Orphanet] 46 / 7739
41
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
42
 (HPO:0000510) Rod-cone dystrophy Occasional [Orphanet] 266 / 7739
43
 (HPO:0003134) Abnormality of peripheral nerve conduction Frequent [Orphanet] 38 / 7739
44
 (HPO:0001595) Abnormality of the hair Occasional [Orphanet] 89 / 7739
45
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
46
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
47
 (HPO:0010783) Erythema Frequent [Orphanet] 138 / 7739
48
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
49
 (HPO:0100022) Abnormality of movement Frequent [Orphanet] 129 / 7739
50
 (HPO:0000479) Abnormality of the retina Frequent [Orphanet] 74 / 7739
51
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
52
 (HPO:0000077) Abnormality of the kidney Frequent [Orphanet] 73 / 7739
53
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
54
 (HPO:0001324) Muscle weakness Occasional [Orphanet] 859 / 7739
55
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
56
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
57
 (HPO:0002803) Congenital contracture Occasional [Orphanet] 45 / 7739
58
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
59
 (HPO:0011867) Abnormality of the wing of the ilium Occasional [Orphanet] 123 / 7739
60
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
61
 (HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739
62
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
63
 (HPO:0000028) Cryptorchidism 347 / 7739
64
 (HPO:0000054) Micropenis 257 / 7739
65
 (HPO:0000083) Renal insufficiency 232 / 7739
66
 (HPO:0000093) Proteinuria 169 / 7739
67
 (HPO:0000292) Loss of facial adipose tissue 6 / 7739
68
 (HPO:0000303) Mandibular prognathia 179 / 7739
69
 (HPO:0000377) Abnormality of the pinna 111 / 7739
70
 (HPO:0000417) Slender nose 5 / 7739
71
 (HPO:0000482) Microcornea 102 / 7739
72
 (HPO:0000540) Hypermetropia 99 / 7739
73
 (HPO:0000568) Microphthalmia 183 / 7739
74
 (HPO:0000580) Pigmentary retinopathy 49 / 7739
75
 (HPO:0000633) Decreased lacrimation 6 / 7739
76
 (HPO:0000639) Nystagmus 555 / 7739
77
 (HPO:0000648) Optic atrophy 238 / 7739
78
 (HPO:0000649) Abnormality of visual evoked potentials 34 / 7739
79
 (HPO:0000680) Delayed eruption of primary teeth 10 / 7739
80
 (HPO:0000685) Hypoplasia of teeth 12 / 7739
81
 (HPO:0000762) Decreased nerve conduction velocity 36 / 7739
82
 (HPO:0000939) Osteoporosis 129 / 7739
83
 (HPO:0000958) Dry skin 152 / 7739
84
 (HPO:0000970) Anhidrosis 24 / 7739
85
 (HPO:0001000) Abnormality of skin pigmentation 105 / 7739
86
 (HPO:0001249) Intellectual disability 1089 / 7739
87
 (HPO:0001271) Polyneuropathy 56 / 7739
88
 (HPO:0001376) Limitation of joint mobility 27 / 7739
89
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
90
 (HPO:0001518) Small for gestational age 107 / 7739
91
 (HPO:0001525) Severe failure to thrive 13 / 7739
92
 (HPO:0001744) Splenomegaly 337 / 7739
93
 (HPO:0002059) Cerebral atrophy 171 / 7739
94
 (HPO:0002135) Basal ganglia calcification 37 / 7739
95
 (HPO:0002240) Hepatomegaly 467 / 7739
96
 (HPO:0002343) Normal pressure hydrocephalus 6 / 7739
97
 (HPO:0002545) Patchy demyelination of subcortical white matter 3 / 7739
98
 (HPO:0002684) Thickened calvaria 32 / 7739
99
 (HPO:0002866) Hypoplastic iliac wing 34 / 7739
100
 (HPO:0003130) Abnormal peripheral myelination 3 / 7739
101
 (HPO:0003224) Increased cellular sensitivity to UV light 8 / 7739
102
 (HPO:0003278) Square pelvis bone 3 / 7739
103
 (HPO:0003469) Peripheral dysmyelination 3 / 7739
104
 (HPO:0003510) Severe short stature 90 / 7739
105
 (HPO:0003758) Reduced subcutaneous adipose tissue 27 / 7739
106
 (HPO:0004334) Dermal atrophy 34 / 7739
107
 (HPO:0005328) Progeroid facial appearance 13 / 7739
108
 (HPO:0006958) Abnormal auditory evoked potentials 12 / 7739
109
 (HPO:0007346) Subcortical white matter calcifications 2 / 7739
110
 (HPO:0007352) Cerebellar calcifications 2 / 7739
111
 (HPO:0007676) Hypoplasia of the iris 22 / 7739
112
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
113
 (HPO:0008070) Sparse hair 94 / 7739
114
 (HPO:0008839) Hypoplastic pelvis 18 / 7739
115
 (HPO:0008897) Postnatal growth retardation 113 / 7739
116
 (HPO:0010234) Ivory epiphyses of the phalanges of the hand 3 / 7739
117
 (HPO:0011359) Dry hair 16 / 7739
118
 (HPO:0011675) Arrhythmia 226 / 7739