|
1
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
|
2
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
|
3
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
|
4
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
5
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
6
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
7
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
8
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
|
9
|
(HPO:0001382)
|
Joint hypermobility |
|
|
|
|
231 / 7739
|
|
10
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
11
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
12
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
13
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
14
|
(HPO:0002643)
|
Neonatal respiratory distress |
|
|
|
|
22 / 7739
|
|
15
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
16
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
17
|
(HPO:0003298)
|
Spina bifida occulta |
|
|
|
|
67 / 7739
|
|
18
|
(HPO:0003307)
|
Hyperlordosis |
|
|
|
|
122 / 7739
|
|
19
|
(HPO:0003691)
|
Scapular winging |
|
|
|
|
51 / 7739
|
|
20
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
21
|
(HPO:0004570)
|
Increased vertebral height |
|
|
|
|
6 / 7739
|
|
22
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
23
|
(HPO:0008734)
|
Decreased testicular size |
|
|
|
|
105 / 7739
|
|
24
|
(HPO:0008839)
|
Hypoplastic pelvis |
|
|
|
|
18 / 7739
|
|
25
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
26
|
(HPO:0009237)
|
Short 5th finger |
|
|
|
|
16 / 7739
|
|
27
|
(OMIM)
|
Increased relative head circumference |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Pointed, prominent chin |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Hypoplastic midface |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Full eyebrows |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Fleshy, upturned nose |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0012471)
|
Thick vermilion border |
|
|
|
|
115 / 7739
|
|
33
|
(OMIM)
|
Short, wide, flat thorax |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
High, square shoulders |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Enlarged abdomen |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0001373)
|
Joint dislocation |
|
|
|
|
59 / 7739
|
|
37
|
(OMIM)
|
Long, slender tubular bones |
|
|
|
|
1 / 7739
|
|
38
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
39
|
(OMIM)
|
Prominent heel |
|
|
|
|
5 / 7739
|
|
40
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
41
|
(OMIM)
|
Decreased male fertility |
|
|
|
|
1 / 7739
|