Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
2
 (HPO:0002024) Malabsorption Occasional [Orphanet] 142 / 7739
3
 (HPO:0000992) Cutaneous photosensitivity Very frequent [Orphanet] 75 / 7739
4
 (HPO:0002664) Neoplasm Very frequent [Orphanet] 111 / 7739
5
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
6
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
7
 (HPO:0002110) Bronchiectasis Occasional [Orphanet] 73 / 7739
8
 (HPO:0003394) Muscle cramps Occasional [Orphanet] 106 / 7739
9
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
10
 (HPO:0002818) Abnormality of the radius Occasional [Orphanet] 96 / 7739
11
 (HPO:0000670) Carious teeth Frequent [Orphanet] 145 / 7739
12
 (HPO:0000490) Deeply set eye Frequent [Orphanet] 131 / 7739
13
 (HPO:0001874) Abnormality of neutrophils Occasional [Orphanet] 47 / 7739
14
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
15
 (HPO:0001363) Craniosynostosis Occasional [Orphanet] 132 / 7739
16
 (HPO:0001053) Hypopigmented skin patches Very frequent [Orphanet] 80 / 7739
17
 (HPO:0100242) Sarcoma Frequent [Orphanet] 27 / 7739
18
 (HPO:0000822) Hypertension Occasional [Orphanet] 224 / 7739
19
 (HPO:0001373) Joint dislocation Frequent [Orphanet] 59 / 7739
20
 (HPO:0000834) Abnormality of the adrenal glands Occasional [Orphanet] 14 / 7739
21
 (HPO:0004334) Dermal atrophy 34 / 7739
22
 (HPO:0000965) Cutis marmorata Very frequent [Orphanet] 46 / 7739
23
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
24
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Occasional [Orphanet] 80 / 7739
25
 (HPO:0005107) Abnormality of the sacrum Occasional [Orphanet] 18 / 7739
26
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
27
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
28
 (HPO:0000271) Abnormality of the face Frequent [Orphanet] 108 / 7739
29
 (HPO:0002216) Premature graying of hair Occasional [Orphanet] 43 / 7739
30
 (HPO:0000356) Abnormality of the outer ear Frequent [Orphanet] 85 / 7739
31
 (HPO:0200042) Skin ulcer Frequent [Orphanet] 138 / 7739
32
 (HPO:0003045) Abnormality of the patella Occasional [Orphanet] 33 / 7739
33
 (HPO:0001595) Abnormality of the hair Frequent [Orphanet] 89 / 7739
34
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
35
 (HPO:0000202) Oral cleft Occasional [Orphanet] 120 / 7739
36
 (HPO:0002997) Abnormality of the ulna Occasional [Orphanet] 75 / 7739
37
 (HPO:0000962) Hyperkeratosis Frequent [Orphanet] 216 / 7739
38
 (HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
39
 (HPO:0007400) Irregular hyperpigmentation Very frequent [Orphanet] 72 / 7739
40
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
41
 (HPO:0006753) Neoplasm of the stomach Occasional [Orphanet] 13 / 7739
42
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
43
 (HPO:0000924) Abnormality of the skeletal system Frequent [Orphanet] 114 / 7739
44
 (HPO:0000112) Nephropathy Occasional [Orphanet] 92 / 7739
45
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
46
 (HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
47
 (HPO:0000135) Hypogonadism 89 / 7739
48
 (HPO:0002863) Myelodysplasia Occasional [Orphanet] 30 / 7739
49
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
50
 (HPO:0000939) Osteoporosis 129 / 7739
51
 (HPO:0001029) Poikiloderma Very frequent [Orphanet] 23 / 7739
52
 (HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
53
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
54
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
55
 (HPO:0002017) Nausea and vomiting Occasional [Orphanet] 134 / 7739
56
 (HPO:0002021) Pyloric stenosis Occasional [Orphanet] 51 / 7739
57
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
58
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
59
 (HPO:0000322) Short philtrum Frequent [Orphanet] 130 / 7739
60
 (HPO:0000366) Abnormality of the nose Frequent [Orphanet] 56 / 7739
61
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
62
 (HPO:0000958) Dry skin Frequent [Orphanet] 152 / 7739
63
 (HPO:0001249) Intellectual disability 5% [HPO:probinson] 1089 / 7739
64
 (HPO:0000028) Cryptorchidism 347 / 7739
65
 (HPO:0000303) Mandibular prognathia 179 / 7739
66
 (HPO:0000482) Microcornea 102 / 7739
67
 (HPO:0000486) Strabismus 576 / 7739
68
 (HPO:0000568) Microphthalmia 183 / 7739
69
 (HPO:0000684) Delayed eruption of teeth 117 / 7739
70
 (HPO:0000691) Microdontia 104 / 7739
71
 (HPO:0001009) Telangiectasia 46 / 7739
72
 (HPO:0001163) Abnormality of the metacarpal bones Occasional [Orphanet] 149 / 7739
73
 (HPO:0001374) Congenital hip dislocation rare [HPO:skoehler] 51 / 7739
74
 (HPO:0001545) Anteriorly placed anus 55 / 7739
75
 (HPO:0001596) Alopecia 162 / 7739
76
 (HPO:0001597) Abnormality of the nail 115 / 7739
77
 (HPO:0001734) Annular pancreas 10 / 7739
78
 (HPO:0001762) Talipes equinovarus 309 / 7739
79
 (HPO:0001773) Short foot 86 / 7739
80
 (HPO:0002669) Osteosarcoma 12 / 7739
81
 (HPO:0002671) Basal cell carcinoma 18 / 7739
82
 (HPO:0002751) Kyphoscoliosis rare [HPO:skoehler] 131 / 7739
83
 (HPO:0002860) Squamous cell carcinoma 18 / 7739
84
 (HPO:0003196) Short nose 264 / 7739
85
 (HPO:0004279) Short palm 323 / 7739
86
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
87
 (HPO:0006349) Agenesis of permanent teeth 13 / 7739
88
 (HPO:0006368) Forearm reduction defects 2 / 7739
89
 (HPO:0007713) Juvenile zonular cataracts 1 / 7739
90
 (HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
91
 (HPO:0008069) Neoplasm of the skin Occasional [Orphanet] 84 / 7739
92
 (HPO:0008070) Sparse hair 94 / 7739
93
 (HPO:0009778) Short thumb 50 / 7739
94
 (HPO:0009804) Reduced number of teeth Occasional [Orphanet] 137 / 7739
95
 (HPO:0011069) Increased number of teeth 39 / 7739
96
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Frequent [Orphanet] 117 / 7739
97
 (HPO:0200055) Small hand 71 / 7739
98
 (OMIM) Mesodermal iris dysgenesis (in some patients) 1 / 7739
99
 (OMIM) Small, saddle nose 1 / 7739
100
 (OMIM) Multiple crown malformations 1 / 7739
101
 (OMIM) Absence of patella 1 / 7739
102
 (OMIM) Hypermobile joints 3 / 7739
103
 (OMIM) Restricted range of movement in some joints (rare) 1 / 7739
104
 (OMIM) Erythematous skin lesions in infancy 1 / 7739
105
 (OMIM) Shallow indolent cutaneous ulcers (in some patients) 1 / 7739
106
 (OMIM) Atrophic nails 1 / 7739
107
 (OMIM) Mental retardation in 5-13% 1 / 7739
108
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
109
 (HPO:0000606) Abnormality of the periorbital region Frequent [Orphanet] 96 / 7739
110
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
111
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
112
 (HPO:0002803) Congenital contracture Occasional [Orphanet] 45 / 7739
113
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
114
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
115
 (HPO:0100692) Increased corneal curvature Occasional [Orphanet] 13 / 7739
116
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739