1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
2
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
3
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
4
|
(HPO:0000239)
|
Large fontanelles |
|
|
|
|
135 / 7739
|
5
|
(HPO:0000270)
|
Delayed cranial suture closure |
|
|
|
|
33 / 7739
|
6
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
7
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
8
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
9
|
(HPO:0000341)
|
Narrow forehead |
|
|
|
|
96 / 7739
|
10
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
11
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
12
|
(HPO:0000472)
|
Long neck |
|
|
|
|
8 / 7739
|
13
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
14
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
15
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
16
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
17
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
18
|
(HPO:0000822)
|
Hypertension |
|
|
|
|
224 / 7739
|
19
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
20
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
21
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
22
|
(HPO:0001647)
|
Bicuspid aortic valve |
|
|
|
|
34 / 7739
|
23
|
(HPO:0001653)
|
Mitral regurgitation |
|
|
|
|
64 / 7739
|
24
|
(HPO:0001659)
|
Aortic regurgitation |
|
|
|
|
36 / 7739
|
25
|
(HPO:0001840)
|
Metatarsus adductus |
|
|
|
|
49 / 7739
|
26
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
27
|
(HPO:0002656)
|
Epiphyseal dysplasia |
|
|
|
|
25 / 7739
|
28
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
29
|
(HPO:0002858)
|
Meningioma |
|
|
|
|
22 / 7739
|
30
|
(HPO:0002967)
|
Cubitus valgus |
|
|
|
|
49 / 7739
|
31
|
(HPO:0003088)
|
Premature osteoarthritis |
|
|
|
|
10 / 7739
|
32
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
33
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
34
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
|
|
50 / 7739
|
35
|
(HPO:0006824)
|
Cranial nerve paralysis |
|
|
|
|
81 / 7739
|
36
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
37
|
(HPO:0010584)
|
Pseudoepiphyses |
|
|
|
|
3 / 7739
|
38
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
39
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
40
|
(OMIM)
|
Short stature, final adult height 150-160cm |
|
|
|
|
1 / 7739
|
41
|
(OMIM)
|
Tall forehead |
|
|
|
|
4 / 7739
|
42
|
(OMIM)
|
Vessel calcification (hands & feet) |
|
|
|
|
1 / 7739
|
43
|
(OMIM)
|
Decreased hip extension |
|
|
|
|
1 / 7739
|
44
|
(OMIM)
|
Degenerative hip disease |
|
|
|
|
1 / 7739
|
45
|
(OMIM)
|
Decreased extension (elbows and knees) |
|
|
|
|
1 / 7739
|
46
|
(OMIM)
|
Prominent deltoid insertion of humerus |
|
|
|
|
1 / 7739
|
47
|
(OMIM)
|
Small flat epiphyses |
|
|
|
|
2 / 7739
|
48
|
(OMIM)
|
Hyperextensible elbows |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Absent distal flexion creases |
|
|
|
|
1 / 7739
|
50
|
(HPO:0001215)
|
Camptodactyly of 2nd-5th fingers |
|
|
|
|
8 / 7739
|
51
|
(HPO:0001836)
|
Camptodactyly of toe |
|
|
|
|
27 / 7739
|
52
|
(HPO:0100490)
|
Camptodactyly of finger |
|
|
|
|
212 / 7739
|
53
|
(HPO:0001373)
|
Joint dislocation |
|
|
|
|
59 / 7739
|
54
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
55
|
(HPO:0002999)
|
Patellar dislocation |
|
|
|
|
46 / 7739
|
56
|
(HPO:0003042)
|
Elbow dislocation |
|
|
|
|
89 / 7739
|
57
|
(HPO:0003179)
|
Protrusio acetabuli |
|
|
|
|
37 / 7739
|
58
|
(HPO:0003834)
|
Shoulder dislocation |
|
|
|
|
28 / 7739
|
59
|
(HPO:0003994)
|
Dislocated wrist |
|
|
|
|
24 / 7739
|
60
|
(HPO:0005021)
|
Bilateral elbow dislocations |
|
|
|
|
24 / 7739
|
61
|
(HPO:0012095)
|
Multiple joint dislocation |
|
|
|
|
24 / 7739
|
62
|
(OMIM)
|
Short forth metacarpal |
|
|
|
|
1 / 7739
|
63
|
(OMIM)
|
Severe metatarsus adductus |
|
|
|
|
1 / 7739
|
64
|
(OMIM)
|
cranial nerve palsy, intermittent, transient |
|
|
|
|
1 / 7739
|
65
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
66
|
(HPO:0012745)
|
Short palpebral fissure |
|
|
|
|
47 / 7739
|