|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
3
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
4
|
(HPO:0000233)
|
Thin vermilion border |
|
|
|
|
124 / 7739
|
|
5
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
6
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
7
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
8
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
9
|
(HPO:0003022)
|
Hypoplasia of the ulna |
|
|
|
|
40 / 7739
|
|
10
|
(HPO:0003038)
|
Fibular hypoplasia |
|
|
|
|
30 / 7739
|
|
11
|
(HPO:0003097)
|
Short femur |
|
|
|
|
13 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
13
|
(HPO:0005736)
|
Short tibia |
|
|
|
|
19 / 7739
|
|
14
|
(HPO:0005815)
|
Supernumerary ribs |
|
|
|
|
9 / 7739
|
|
15
|
(HPO:0006501)
|
Aplasia/Hypoplasia of the radius |
|
|
|
|
2 / 7739
|
|
16
|
(HPO:0009777)
|
Absent thumb |
|
|
|
|
31 / 7739
|
|
17
|
(OMIM)
|
Dysmorphic face |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Protruding right ear |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
13 ribs |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Hypoplastic right clavicle |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Hypoplastic right scapula |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Shortened humeri |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Shortened femurs |
|
|
|
|
2 / 7739
|
|
24
|
(OMIM)
|
Shortened tibia |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Fibula shortening |
|
|
|
|
3 / 7739
|
|
26
|
(OMIM)
|
Hyperelastic knee joints |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Hypoplastic patella, unilateral |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Absent thumbs, bilaterally |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Bifid hallux, unilateral |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|