|
1
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
4
|
(HPO:0000340)
|
Sloping forehead |
|
|
|
|
86 / 7739
|
|
5
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
|
|
121 / 7739
|
|
6
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
|
7
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
|
8
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
9
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
|
10
|
(HPO:0000882)
|
Hypoplastic scapulae |
|
|
|
|
28 / 7739
|
|
11
|
(HPO:0000957)
|
Cafe-au-lait spot |
|
|
|
|
84 / 7739
|
|
12
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
13
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
14
|
(HPO:0001377)
|
Limited elbow extension |
|
|
|
|
38 / 7739
|
|
15
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
16
|
(HPO:0001620)
|
High pitched voice |
|
|
|
|
32 / 7739
|
|
17
|
(HPO:0001956)
|
Truncal obesity |
|
|
|
|
39 / 7739
|
|
18
|
(HPO:0002209)
|
Sparse scalp hair |
|
|
|
|
59 / 7739
|
|
19
|
(HPO:0002690)
|
Large sella turcica |
|
|
|
|
12 / 7739
|
|
20
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
21
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
|
22
|
(HPO:0002866)
|
Hypoplastic iliac wing |
|
|
|
|
34 / 7739
|
|
23
|
(HPO:0003015)
|
Flared metaphysis |
|
|
|
|
44 / 7739
|
|
24
|
(HPO:0003498)
|
Disproportionate short stature |
|
|
|
|
28 / 7739
|
|
25
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
|
26
|
(HPO:0005819)
|
Short middle phalanx of finger |
|
|
|
|
28 / 7739
|
|
27
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
|
28
|
(HPO:0006461)
|
Proximal femoral epiphysiolysis |
|
|
|
|
5 / 7739
|
|
29
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
30
|
(HPO:0009193)
|
Pseudoepiphyses of the metacarpals |
|
|
|
|
4 / 7739
|
|
31
|
(HPO:0009882)
|
Short distal phalanx of finger |
|
|
|
|
125 / 7739
|
|
32
|
(HPO:0010034)
|
Short 1st metacarpal |
|
|
|
|
19 / 7739
|
|
33
|
(HPO:0100263)
|
Distal symphalangism |
|
|
|
|
5 / 7739
|
|
34
|
(OMIM)
|
Adult height (<100cm) |
|
|
|
|
2 / 7739
|
|
35
|
(HPO:0008850)
|
Severe postnatal growth retardation |
|
|
|
|
16 / 7739
|
|
36
|
(OMIM)
|
Opalescent teeth |
|
|
|
|
4 / 7739
|
|
37
|
(OMIM)
|
Microdontia, severe (in some patients) |
|
|
|
|
2 / 7739
|
|
38
|
(OMIM)
|
Rootless molars (in some patients) |
|
|
|
|
2 / 7739
|
|
39
|
(HPO:0006338)
|
Malformation of mandibular premolar |
|
|
|
|
2 / 7739
|
|
40
|
(OMIM)
|
Long, slender, straight clavicles (in some patients) |
|
|
|
|
2 / 7739
|
|
41
|
(OMIM)
|
High, narrow pelvis |
|
|
|
|
2 / 7739
|
|
42
|
(OMIM)
|
Flat acetabular angles |
|
|
|
|
2 / 7739
|
|
43
|
(OMIM)
|
Short bowed radii |
|
|
|
|
5 / 7739
|
|
44
|
(OMIM)
|
Short bowed ulnae |
|
|
|
|
2 / 7739
|
|
45
|
(OMIM)
|
V-shaped flaring of distal femoral metaphyses |
|
|
|
|
2 / 7739
|
|
46
|
(OMIM)
|
Bowed, short femora |
|
|
|
|
4 / 7739
|
|
47
|
(OMIM)
|
Bowed, short tibiae |
|
|
|
|
4 / 7739
|
|
48
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
49
|
(OMIM)
|
Ivory and cone-shaped epiphyses (in some patients - disappears with age) |
|
|
|
|
2 / 7739
|
|
50
|
(OMIM)
|
Angular scaphoid and trapezium bones (in some patients) |
|
|
|
|
2 / 7739
|
|
51
|
(HPO:0001204)
|
Distal symphalangism of hands |
|
|
|
|
13 / 7739
|
|
52
|
(HPO:0001859)
|
Distal foot symphalangism |
|
|
|
|
4 / 7739
|
|
53
|
(OMIM)
|
Long second toe (in some patients) |
|
|
|
|
3 / 7739
|
|
54
|
(HPO:0007402)
|
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines |
|
|
|
|
2 / 7739
|
|
55
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
56
|
(OMIM)
|
Multiple aneurysms |
|
|
|
|
2 / 7739
|
|
57
|
(MedDRA:10028047)
|
Moyamoya disease |
|
|
|
|
4 / 7739
|
|
58
|
(OMIM)
|
Infarcts |
|
|
|
|
2 / 7739
|
|
59
|
(OMIM)
|
Type II diabetes |
|
|
|
|
2 / 7739
|
|
60
|
(OMIM)
|
Premature puberty |
|
|
|
|
2 / 7739
|