1
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
2
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Very frequent [Orphanet]
|
|
|
|
105 / 7739
|
3
|
(HPO:0011276)
|
Vascular skin abnormality |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
4
|
(HPO:0100730)
|
Bronchogenic cyst |
Frequent [Orphanet]
|
|
|
|
5 / 7739
|
5
|
(HPO:0004684)
|
Talipes valgus |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
6
|
(HPO:0001528)
|
Hemihypertrophy |
|
|
|
|
13 / 7739
|
7
|
(HPO:0100555)
|
Asymmetric growth |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
8
|
(HPO:0001052)
|
Nevus flammeus |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
9
|
(HPO:0010788)
|
Testicular neoplasm |
Occasional [Orphanet]
|
|
|
|
10 / 7739
|
10
|
(HPO:0000545)
|
Myopia |
Occasional [Orphanet]
|
|
|
|
286 / 7739
|
11
|
(HPO:0100615)
|
Ovarian neoplasm |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
12
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
13
|
(HPO:0005280)
|
Depressed nasal bridge |
Occasional [Orphanet]
|
|
|
|
381 / 7739
|
14
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
15
|
(HPO:0001100)
|
Heterochromia iridis |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
16
|
(HPO:0000040)
|
Long penis |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
17
|
(HPO:0000670)
|
Carious teeth |
Occasional [Orphanet]
|
|
|
|
145 / 7739
|
18
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
19
|
(HPO:0000501)
|
Glaucoma |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
20
|
(HPO:0009928)
|
Thick nasal alae |
Occasional [Orphanet]
|
|
|
|
21 / 7739
|
21
|
(HPO:0001363)
|
Craniosynostosis |
Occasional [Orphanet]
|
|
|
|
132 / 7739
|
22
|
(HPO:0000463)
|
Anteverted nares |
Occasional [Orphanet]
|
|
|
|
305 / 7739
|
23
|
(HPO:0000541)
|
Retinal detachment |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
24
|
(HPO:0001072)
|
Thickened skin |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
25
|
(HPO:0004420)
|
Arterial thrombosis |
Occasional [Orphanet]
|
|
|
|
20 / 7739
|
26
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
27
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
28
|
(HPO:0000995)
|
Melanocytic nevus |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
29
|
(HPO:0003764)
|
Nevus |
|
|
|
|
17 / 7739
|
30
|
(HPO:0010516)
|
Thymus hyperplasia |
Occasional [Orphanet]
|
|
|
|
4 / 7739
|
31
|
(HPO:0001012)
|
Multiple lipomas |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
32
|
(HPO:0012032)
|
Lipoma |
|
|
|
|
10 / 7739
|
33
|
(HPO:0100521)
|
Neoplasm of the thymus |
Occasional [Orphanet]
|
|
|
|
7 / 7739
|
34
|
(HPO:0100777)
|
Exostoses |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
35
|
(HPO:0009594)
|
Retinal hamartoma |
Occasional [Orphanet]
|
|
|
|
5 / 7739
|
36
|
(HPO:0000557)
|
Buphthalmos |
Occasional [Orphanet]
|
|
|
|
16 / 7739
|
37
|
(HPO:0001743)
|
Abnormality of the spleen |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
38
|
(HPO:0000510)
|
Rod-cone dystrophy |
Occasional [Orphanet]
|
|
|
|
266 / 7739
|
39
|
(HPO:0001597)
|
Abnormality of the nail |
Occasional [Orphanet]
|
|
|
|
115 / 7739
|
40
|
(HPO:0100761)
|
Visceral angiomatosis |
Frequent [Orphanet]
|
|
|
|
21 / 7739
|
41
|
(HPO:0000137)
|
Abnormality of the ovary |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
42
|
(HPO:0004437)
|
Cranial hyperostosis |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
43
|
(HPO:0004490)
|
Calvarial hyperostosis |
|
|
|
|
11 / 7739
|
44
|
(HPO:0005465)
|
Facial hyperostosis |
|
|
|
|
4 / 7739
|
45
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
46
|
(HPO:0003198)
|
Myopathy |
Occasional [Orphanet]
|
|
|
|
151 / 7739
|
47
|
(HPO:0000268)
|
Dolichocephaly |
Frequent [Orphanet]
|
|
|
|
144 / 7739
|
48
|
(HPO:0100764)
|
Lymphangioma |
Very frequent [Orphanet]
|
|
|
|
11 / 7739
|
49
|
(HPO:0100780)
|
Conjunctival hamartoma |
Occasional [Orphanet]
|
|
|
|
4 / 7739
|
50
|
(HPO:0000276)
|
Long face |
Occasional [Orphanet]
|
|
|
|
109 / 7739
|
51
|
(HPO:0000464)
|
Abnormality of the neck |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
52
|
(HPO:0001822)
|
Hallux valgus |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
53
|
(HPO:0100746)
|
Macrodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
5 / 7739
|
54
|
(HPO:0000957)
|
Cafe-au-lait spot |
Frequent [Orphanet]
|
|
|
|
84 / 7739
|
55
|
(HPO:0100526)
|
Neoplasm of the lung |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
56
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
57
|
(HPO:0000098)
|
Tall stature |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
58
|
(HPO:0001695)
|
Cardiac arrest |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
59
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
60
|
(HPO:0000520)
|
Proptosis |
Occasional [Orphanet]
|
|
|
|
192 / 7739
|
61
|
(HPO:0000053)
|
Macroorchidism |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
62
|
(HPO:0002858)
|
Meningioma |
Occasional [Orphanet]
|
|
|
|
22 / 7739
|
63
|
(HPO:0000962)
|
Hyperkeratosis |
Frequent [Orphanet]
|
|
|
|
216 / 7739
|
64
|
(HPO:0004326)
|
Cachexia |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
65
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
66
|
(HPO:0000256)
|
Macrocephaly |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
67
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
68
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
69
|
(HPO:0003019)
|
Abnormality of the wrist |
Occasional [Orphanet]
|
|
|
|
52 / 7739
|
70
|
(HPO:0100026)
|
Arteriovenous malformation |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
71
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
|
|
288 / 7739
|
72
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
73
|
(HPO:0002808)
|
Kyphosis |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
74
|
(HPO:0002204)
|
Pulmonary embolism |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
75
|
(HPO:0100559)
|
Lower limb asymmetry |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
76
|
(HPO:0100774)
|
Hyperostosis |
Frequent [Orphanet]
|
|
|
|
17 / 7739
|
77
|
(HPO:0001744)
|
Splenomegaly |
Occasional [Orphanet]
|
|
|
|
337 / 7739
|
78
|
(HPO:0000682)
|
Abnormality of dental enamel |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
79
|
(HPO:0001004)
|
Lymphedema |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
80
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
81
|
(HPO:0010497)
|
Sirenomelia |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
82
|
(HPO:0009125)
|
Lipodystrophy |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
83
|
(HPO:0002625)
|
Deep venous thrombosis |
|
|
|
|
10 / 7739
|
84
|
(HPO:0001555)
|
Asymmetry of the thorax |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
85
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
86
|
(HPO:0001028)
|
Hemangioma |
|
|
|
|
23 / 7739
|
87
|
(HPO:0001140)
|
Epibulbar dermoid |
|
|
|
|
11 / 7739
|
88
|
(HPO:0002176)
|
Spinal cord compression |
|
|
|
|
15 / 7739
|
89
|
(HPO:0002342)
|
Intellectual disability, moderate |
|
|
|
|
37 / 7739
|
90
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
91
|
(HPO:0003416)
|
Spinal canal stenosis |
|
|
|
|
28 / 7739
|
92
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
93
|
(HPO:0004472)
|
Mandibular hyperostosis |
|
|
|
|
1 / 7739
|
94
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
95
|
(HPO:0007403)
|
Hypertrophy of skin of soles |
|
|
|
|
1 / 7739
|
96
|
(HPO:0007483)
|
Depigmentation/hyperpigmentation of skin |
|
|
|
|
1 / 7739
|
97
|
(HPO:0009804)
|
Reduced number of teeth |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
98
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Occasional [Orphanet]
|
|
|
|
148 / 7739
|
99
|
(OMIM)
|
Generalized, unilateral or localized overgrowth of any tissue |
|
|
|
|
1 / 7739
|
100
|
(OMIM)
|
Hyperostoses of calvaria, facial bones, and mandible |
|
|
|
|
1 / 7739
|
101
|
(HPO:0010816)
|
Epidermal nevus |
|
|
|
|
2 / 7739
|
102
|
(OMIM)
|
Depigmentation/hyperpigmentation |
|
|
|
|
1 / 7739
|
103
|
(OMIM)
|
Hemangiomata, especially thorax and upper abdomen |
|
|
|
|
1 / 7739
|
104
|
(MedDRA:10048409)
|
Brain malformation |
|
|
|
|
2 / 7739
|
105
|
(OMIM)
|
Spinal cord compression by tumor infiltration |
|
|
|
|
1 / 7739
|
106
|
(OMIM)
|
Spinal stenosis from angular kyphoscoliosis |
|
|
|
|
1 / 7739
|
107
|
(HPO:0002817)
|
Abnormality of the upper limb |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
108
|
(HPO:0100649)
|
Neoplasm of the oral cavity |
Frequent [Orphanet]
|
|
|
|
20 / 7739
|
109
|
(HPO:0001031)
|
Subcutaneous lipoma |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
110
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
111
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
112
|
(HPO:0011362)
|
Abnormal hair quantity |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
113
|
(HPO:0000372)
|
Abnormality of the auditory canal |
Occasional [Orphanet]
|
|
|
|
49 / 7739
|
114
|
(HPO:0012581)
|
Solitary renal cyst |
Occasional [Orphanet]
|
|
|
|
7 / 7739
|
115
|
(HPO:0030350)
|
Erythematous papule |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
116
|
(HPO:0012182)
|
Oropharyngeal squamous cell carcinoma |
Occasional [Orphanet]
|
|
|
|
4 / 7739
|
117
|
(HPO:0000479)
|
Abnormality of the retina |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
118
|
(HPO:0000194)
|
Open mouth |
|
|
|
|
70 / 7739
|
119
|
(HPO:0002753)
|
Thin bony cortex |
|
|
|
|
16 / 7739
|
120
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
121
|
(HPO:0012721)
|
Venous malformation |
|
|
|
|
3 / 7739
|