Symptom Information: Sort according to HPO 

1
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
2
 (HPO:0007731) Chorioretinal dysplasia 16 / 7739
3
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
4
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
5
 (HPO:0200042) Skin ulcer Occasional [Orphanet] 138 / 7739
6
 (HPO:0009891) Underdeveloped supraorbital ridges Occasional [Orphanet] 36 / 7739
7
 (HPO:0001595) Abnormality of the hair Frequent [Orphanet] 89 / 7739
8
 (HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
9
 (HPO:0000545) Myopia Frequent [Orphanet] occasional [HPO:probinson] 286 / 7739
10
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
11
 (HPO:0000411) Protruding ear Occasional [Orphanet] 140 / 7739
12
 (HPO:0000445) Wide nose Occasional [Orphanet] 190 / 7739
13
 (HPO:0008388) Abnormality of the toenails Frequent [Orphanet] 28 / 7739
14
 (HPO:0000293) Full cheeks Occasional [Orphanet] 85 / 7739
15
 (HPO:0001820) Leukonychia Frequent [Orphanet] 18 / 7739
16
 (HPO:0000582) Upslanted palpebral fissure Occasional [Orphanet] rare [HPO:skoehler] 185 / 7739
17
 (HPO:0000648) Optic atrophy rare [HPO:probinson] 238 / 7739
18
 (HPO:0000307) Pointed chin Occasional [Orphanet] 45 / 7739
19
 (HPO:0000340) Sloping forehead Occasional [Orphanet] 86 / 7739
20
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
21
 (HPO:0002103) Abnormality of the pleura Occasional [Orphanet] 58 / 7739
22
 (HPO:0000478) Abnormality of the eye Very frequent [Orphanet] 126 / 7739
23
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
24
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
25
 (HPO:0000488) Retinopathy Occasional [Orphanet] 75 / 7739
26
 (HPO:0000463) Anteverted nares Occasional [Orphanet] 305 / 7739
27
 (HPO:0000541) Retinal detachment Occasional [Orphanet] 87 / 7739
28
 (HPO:0001072) Thickened skin Occasional [Orphanet] 87 / 7739
29
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
30
 (HPO:0001004) Lymphedema Very frequent [Orphanet] 62 / 7739
31
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
32
 (HPO:0100758) Gangrene Occasional [Orphanet] 25 / 7739
33
 (HPO:0004936) Venous thrombosis Occasional [Orphanet] 41 / 7739
34
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
35
 (HPO:0001055) Erysipelas Occasional [Orphanet] 6 / 7739
36
 (HPO:0000510) Rod-cone dystrophy Frequent [Orphanet] 266 / 7739
37
 (HPO:0000958) Dry skin Occasional [Orphanet] 152 / 7739
38
 (HPO:0000343) Long philtrum Occasional [Orphanet] 262 / 7739
39
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
40
 (HPO:0000303) Mandibular prognathia 179 / 7739
41
 (HPO:0000455) Broad nasal tip 67 / 7739
42
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
43
 (HPO:0001145) Chorioretinopathy 3 / 7739
44
 (HPO:0001256) Intellectual disability, mild 141 / 7739
45
 (HPO:0002002) Deep philtrum 42 / 7739
46
 (HPO:0004377) Hematological neoplasm Occasional [Orphanet] 12 / 7739
47
 (HPO:0005280) Depressed nasal bridge 381 / 7739
48
 (HPO:0005469) Flat occiput 30 / 7739
49
 (HPO:0007786) Lacunar retinal depigmentation 1 / 7739
50
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
51
 (HPO:0011220) Prominent forehead rare [HPO:skoehler] 137 / 7739
52
 (OMIM) Hypermetropic astigmatism (in some patients) 1 / 7739
53
 (OMIM) Broad, large nasal tip 1 / 7739
54
 (OMIM) Prominent, full lip (in some patients) 1 / 7739
55
 (OMIM) Lymphedema, dorsa of feet 1 / 7739
56
 (OMIM) Lymphedema, lower extremities 3 / 7739
57
 (OMIM) Lymphedema, hands (rare) 1 / 7739
58
 (OMIM) Normal intelligence to mild or moderate mental retardation 1 / 7739
59
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
60
 (HPO:0003549) Abnormality of connective tissue Occasional [Orphanet] 22 / 7739
61
 (HPO:0000479) Abnormality of the retina Occasional [Orphanet] 74 / 7739
62
 (HPO:0000606) Abnormality of the periorbital region Occasional [Orphanet] 96 / 7739
63
 (HPO:0012471) Thick vermilion border Occasional [Orphanet] 115 / 7739
64
 (HPO:0001031) Subcutaneous lipoma Occasional [Orphanet] 112 / 7739
65
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
66
 (HPO:0000969) Edema Frequent [Orphanet] 117 / 7739
67
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
68
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
69
 (HPO:0007858) Chorioretinal lacunae rare [HPO:skoehler] 2 / 7739