1
|
(HPO:0000233)
|
Thin vermilion border |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
2
|
(HPO:0001582)
|
Redundant skin |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
3
|
(HPO:0010622)
|
Neoplasm of the skeletal system |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
4
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
Occasional [Orphanet]
|
|
|
|
990 / 7739
|
6
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
7
|
(HPO:0001762)
|
Talipes equinovarus |
Occasional [Orphanet]
|
|
|
|
309 / 7739
|
8
|
(HPO:0002857)
|
Genu valgum |
Occasional [Orphanet]
|
|
|
|
144 / 7739
|
9
|
(HPO:0000574)
|
Thick eyebrow |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
10
|
(HPO:0000405)
|
Conductive hearing impairment |
Occasional [Orphanet]
|
|
|
|
164 / 7739
|
11
|
(HPO:0000411)
|
Protruding ear |
Very frequent [Orphanet]
|
|
|
|
140 / 7739
|
12
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
13
|
(HPO:0000445)
|
Wide nose |
Occasional [Orphanet]
|
|
|
|
190 / 7739
|
14
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
15
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
16
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
17
|
(HPO:0005743)
|
Avascular necrosis of the capital femoral epiphysis |
|
|
|
|
17 / 7739
|
18
|
(HPO:0002653)
|
Bone pain |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
19
|
(HPO:0002823)
|
Abnormality of the femur |
Occasional [Orphanet]
|
|
|
|
61 / 7739
|
20
|
(HPO:0000308)
|
Microretrognathia |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
21
|
(HPO:0011069)
|
Increased number of teeth |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
22
|
(HPO:0009928)
|
Thick nasal alae |
Occasional [Orphanet]
|
|
|
|
21 / 7739
|
23
|
(HPO:0000076)
|
Vesicoureteral reflux |
Occasional [Orphanet]
|
|
|
|
94 / 7739
|
24
|
(HPO:0001373)
|
Joint dislocation |
Frequent [Orphanet]
|
|
|
|
59 / 7739
|
25
|
(HPO:0000954)
|
Single transverse palmar crease |
Occasional [Orphanet]
|
|
|
|
162 / 7739
|
26
|
(HPO:0010579)
|
Cone-shaped epiphysis |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
27
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
28
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
29
|
(HPO:0002209)
|
Sparse scalp hair |
|
|
|
|
59 / 7739
|
30
|
(HPO:0004279)
|
Short palm |
Occasional [Orphanet]
|
|
|
|
323 / 7739
|
31
|
(HPO:0100777)
|
Exostoses |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
32
|
(HPO:0000010)
|
Recurrent urinary tract infections |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
33
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
34
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
35
|
(HPO:0002119)
|
Ventriculomegaly |
Occasional [Orphanet]
|
|
|
|
253 / 7739
|
36
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
37
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
38
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
39
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
40
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
41
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
42
|
(HPO:0000577)
|
Exotropia |
|
|
|
|
43 / 7739
|
43
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
44
|
(HPO:0000896)
|
Rib exostoses |
|
|
|
|
4 / 7739
|
45
|
(HPO:0000918)
|
Scapular exostoses |
|
|
|
|
4 / 7739
|
46
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
47
|
(HPO:0001530)
|
Mild postnatal growth retardation |
|
|
|
|
7 / 7739
|
48
|
(HPO:0001808)
|
Fragile nails |
|
|
|
|
21 / 7739
|
49
|
(HPO:0002002)
|
Deep philtrum |
|
|
|
|
42 / 7739
|
50
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
51
|
(HPO:0002788)
|
Recurrent upper respiratory tract infections |
|
|
|
|
31 / 7739
|
52
|
(HPO:0003691)
|
Scapular winging |
|
|
|
|
51 / 7739
|
53
|
(HPO:0003764)
|
Nevus |
|
|
|
|
17 / 7739
|
54
|
(HPO:0005039)
|
Multiple long-bone exostoses |
|
|
|
|
1 / 7739
|
55
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
56
|
(HPO:0007595)
|
Redundant skin in infancy |
|
|
|
|
1 / 7739
|
57
|
(HPO:0010230)
|
Cone-shaped epiphyses of the phalanges of the hand |
|
|
|
|
34 / 7739
|
58
|
(OMIM)
|
Tented, thickened alae nasi |
|
|
|
|
1 / 7739
|
59
|
(HPO:0000142)
|
Abnormality of the vagina |
|
|
|
|
24 / 7739
|
60
|
(HPO:0000148)
|
Vaginal atresia |
|
|
|
|
16 / 7739
|
61
|
(OMIM)
|
Predisposition to fracture |
|
|
|
|
1 / 7739
|
62
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
63
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
64
|
(OMIM)
|
Chromosome deletion extending from 8q24.11 to 8q24.13 |
|
|
|
|
1 / 7739
|
65
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
66
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
67
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
68
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
69
|
(HPO:0000288)
|
Abnormality of the philtrum |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
70
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
71
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
72
|
(HPO:0030010)
|
Hydrometrocolpos |
|
|
|
|
6 / 7739
|