|
1
|
(HPO:0000233)
|
Thin vermilion border |
|
|
|
|
124 / 7739
|
|
2
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
3
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
|
4
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
5
|
(HPO:0000316)
|
Hypertelorism |
rare [HPO:skoehler]
|
|
|
|
644 / 7739
|
|
6
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
|
7
|
(HPO:0000341)
|
Narrow forehead |
|
|
|
|
96 / 7739
|
|
8
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
9
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
10
|
(HPO:0000486)
|
Strabismus |
rare [HPO:skoehler]
|
|
|
|
576 / 7739
|
|
11
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
12
|
(HPO:0000540)
|
Hypermetropia |
rare [HPO:skoehler]
|
|
|
|
99 / 7739
|
|
13
|
(HPO:0008499)
|
High-grade hypermetropia |
|
|
|
|
14 / 7739
|
|
14
|
(HPO:0000545)
|
Myopia |
rare [HPO:skoehler]
|
|
|
|
286 / 7739
|
|
15
|
(HPO:0000574)
|
Thick eyebrow |
|
|
|
|
96 / 7739
|
|
16
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
17
|
(HPO:0000954)
|
Single transverse palmar crease |
rare [HPO:skoehler]
|
|
|
|
162 / 7739
|
|
18
|
(HPO:0007598)
|
Bilateral single transverse palmar creases |
|
|
|
|
13 / 7739
|
|
19
|
(HPO:0000973)
|
Cutis laxa |
|
|
|
|
43 / 7739
|
|
20
|
(HPO:0001159)
|
Syndactyly |
rare [HPO:skoehler]
|
|
|
|
140 / 7739
|
|
21
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
22
|
(HPO:0001852)
|
Sandal gap |
|
|
|
|
63 / 7739
|
|
23
|
(HPO:0002057)
|
Prominent glabella |
|
|
|
|
8 / 7739
|
|
24
|
(HPO:0002213)
|
Fine hair |
|
|
|
|
77 / 7739
|
|
25
|
(HPO:0001216)
|
Delayed ossification of carpal bones |
|
|
|
|
30 / 7739
|
|
26
|
(HPO:0002750)
|
Delayed skeletal maturation |
rare [HPO:skoehler]
|
|
|
|
250 / 7739
|
|
27
|
(HPO:0002983)
|
Micromelia |
|
|
|
|
130 / 7739
|
|
28
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
29
|
(HPO:0200068)
|
Nonprogressive visual loss |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Senile-appearing face |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Hypoplastic cheekbones |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Small facial features |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Small orbits |
|
|
|
|
2 / 7739
|
|
34
|
(OMIM)
|
Exophthalmos, bilateral |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Optic nerve atrophy, bilateral |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Achromatopsia, complete or incomplete |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0000995)
|
Melanocytic nevus |
|
|
|
|
63 / 7739
|
|
38
|
(HPO:0003764)
|
Nevus |
|
|
|
|
17 / 7739
|
|
39
|
(HPO:0007481)
|
Hyperpigmented nevi |
|
|
|
|
6 / 7739
|
|
40
|
(OMIM)
|
Straight nose |
|
|
|
|
1 / 7739
|
|
41
|
(MedDRA:10063146)
|
Uterine hypoplasia |
|
|
|
|
3 / 7739
|
|
42
|
(OMIM)
|
Hypoplasia of frontal tubers |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Hypoplasia of parietal tubers |
|
|
|
|
1 / 7739
|
|
44
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
45
|
(OMIM)
|
Hypermobility of small joints |
|
|
|
|
3 / 7739
|
|
46
|
(HPO:0001770)
|
Toe syndactyly |
|
|
|
|
149 / 7739
|
|
47
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
|
|
50 / 7739
|
|
48
|
(HPO:0009700)
|
Finger symphalangism |
|
|
|
|
55 / 7739
|
|
49
|
(HPO:0010621)
|
Cutaneous syndactyly of toes |
|
|
|
|
36 / 7739
|
|
50
|
(OMIM)
|
Wide feet |
|
|
|
|
3 / 7739
|
|
51
|
(OMIM)
|
High arch |
|
|
|
|
1 / 7739
|
|
52
|
(OMIM)
|
Wide hallux |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Decreased turgor of skin |
|
|
|
|
1 / 7739
|
|
54
|
(OMIM)
|
Normal intellectual function |
|
|
|
|
1 / 7739
|
|
55
|
(OMIM)
|
High voice with harsh timber |
|
|
|
|
1 / 7739
|
|
56
|
(OMIM)
|
Hypolobulation of granulocyte nuclei (Pelger-Huet anomaly) |
|
|
|
|
1 / 7739
|
|
57
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
58
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
59
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
60
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
|
|
100 / 7739
|