1
|
(HPO:0000457)
|
Depressed nasal ridge |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
2
|
(HPO:0001669)
|
Transposition of the great arteries |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
3
|
(HPO:0000717)
|
Autism |
Occasional [Orphanet]
|
|
|
|
108 / 7739
|
4
|
(HPO:0000356)
|
Abnormality of the outer ear |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
5
|
(HPO:0200042)
|
Skin ulcer |
Occasional [Orphanet]
|
|
|
|
138 / 7739
|
6
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
7
|
(HPO:0002488)
|
Acute leukemia |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
8
|
(HPO:0009776)
|
Adactyly |
Frequent [Orphanet]
|
|
|
|
11 / 7739
|
9
|
(HPO:0000691)
|
Microdontia |
Very frequent [Orphanet]
|
|
|
|
104 / 7739
|
10
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
11
|
(HPO:0000098)
|
Tall stature |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
12
|
(HPO:0006482)
|
Abnormality of dental morphology |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
13
|
(HPO:0000962)
|
Hyperkeratosis |
Occasional [Orphanet]
|
|
|
|
216 / 7739
|
14
|
(HPO:0002797)
|
Osteolysis |
Occasional [Orphanet]
|
|
|
|
68 / 7739
|
15
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Frequent [Orphanet]
|
|
|
|
185 / 7739
|
16
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
17
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
18
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
19
|
(HPO:0001636)
|
Tetralogy of Fallot |
Frequent [Orphanet]
|
|
|
|
104 / 7739
|
20
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
21
|
(HPO:0000074)
|
Ureteropelvic junction obstruction |
|
|
|
|
15 / 7739
|
22
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
23
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
24
|
(HPO:0010783)
|
Erythema |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
25
|
(HPO:0008064)
|
Ichthyosis |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
26
|
(HPO:0011069)
|
Increased number of teeth |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
27
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
28
|
(HPO:0100760)
|
Clubbing of toes |
Occasional [Orphanet]
|
|
|
|
24 / 7739
|
29
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Frequent [Orphanet]
|
|
|
|
119 / 7739
|
30
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
31
|
(HPO:0002557)
|
Hypoplastic nipples |
|
|
|
|
33 / 7739
|
32
|
(HPO:0006709)
|
Aplasia/Hypoplasia of the nipples |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
33
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
34
|
(HPO:0002213)
|
Fine hair |
Occasional [Orphanet]
|
|
|
|
77 / 7739
|
35
|
(HPO:0001006)
|
Hypotrichosis |
Occasional [Orphanet]
|
|
|
|
219 / 7739
|
36
|
(HPO:0006660)
|
Aplastic clavicles |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
37
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
|
|
576 / 7739
|
38
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
39
|
(HPO:0000322)
|
Short philtrum |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
40
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
41
|
(HPO:0007477)
|
Abnormal dermatoglyphics |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
42
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
43
|
(HPO:0000480)
|
Retinal coloboma |
|
|
|
|
16 / 7739
|
44
|
(HPO:0000077)
|
Abnormality of the kidney |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
45
|
(HPO:0000081)
|
Duplicated collecting system |
|
|
|
|
16 / 7739
|
46
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
47
|
(HPO:0000396)
|
Overfolded helix |
|
|
|
|
21 / 7739
|
48
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
49
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
50
|
(HPO:0000465)
|
Webbed neck |
|
|
|
|
81 / 7739
|
51
|
(HPO:0000687)
|
Widely spaced teeth |
|
|
|
|
40 / 7739
|
52
|
(HPO:0000972)
|
Palmoplantar hyperkeratosis |
|
|
|
|
41 / 7739
|
53
|
(HPO:0001176)
|
Large hands |
|
|
|
|
43 / 7739
|
54
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
55
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
56
|
(HPO:0001520)
|
Large for gestational age |
|
|
|
|
34 / 7739
|
57
|
(HPO:0001641)
|
Abnormality of the pulmonary valve |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
58
|
(HPO:0001833)
|
Long foot |
|
|
|
|
33 / 7739
|
59
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
60
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
61
|
(HPO:0002136)
|
Broad-based gait |
|
|
|
|
30 / 7739
|
62
|
(HPO:0002562)
|
Low-set nipples |
|
|
|
|
2 / 7739
|
63
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
64
|
(HPO:0004969)
|
Peripheral pulmonary artery stenosis |
|
|
|
|
9 / 7739
|
65
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
66
|
(HPO:0006721)
|
Acute lymphoblastic leukemia |
|
|
|
|
7 / 7739
|
67
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
68
|
(HPO:0008760)
|
Violent behavior |
|
|
|
|
2 / 7739
|
69
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
70
|
(HPO:0009804)
|
Reduced number of teeth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
71
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
72
|
(OMIM)
|
Birth length > 90th percentile |
|
|
|
|
1 / 7739
|
73
|
(HPO:0012471)
|
Thick vermilion border |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
74
|
(OMIM)
|
Bifid incisor |
|
|
|
|
1 / 7739
|
75
|
(OMIM)
|
Flattened occiput |
|
|
|
|
3 / 7739
|
76
|
(OMIM)
|
Thickened palms |
|
|
|
|
1 / 7739
|
77
|
(OMIM)
|
Fifth finger clinodactyly/camptodactyly |
|
|
|
|
1 / 7739
|
78
|
(OMIM)
|
Sole thickening |
|
|
|
|
2 / 7739
|
79
|
(OMIM)
|
Large feet |
|
|
|
|
12 / 7739
|
80
|
(OMIM)
|
Broad second toes |
|
|
|
|
1 / 7739
|
81
|
(OMIM)
|
Migratory ichthyosiform dermatosis |
|
|
|
|
1 / 7739
|
82
|
(OMIM)
|
Light, fine hair |
|
|
|
|
1 / 7739
|
83
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
84
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
85
|
(OMIM)
|
Self-abusive behavior |
|
|
|
|
2 / 7739
|
86
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
87
|
(HPO:0000479)
|
Abnormality of the retina |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
88
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
89
|
(HPO:0000481)
|
Abnormality of the cornea |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
90
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
91
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
92
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
93
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|