|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000046)
|
Scrotal hypoplasia |
|
|
|
|
54 / 7739
|
|
3
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
4
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
|
5
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
6
|
(HPO:0000308)
|
Microretrognathia |
|
|
|
|
78 / 7739
|
|
7
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
8
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
|
9
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
10
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
|
11
|
(HPO:0010306)
|
Short thorax |
|
|
|
|
10 / 7739
|
|
12
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
|
13
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
14
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
15
|
(HPO:0002094)
|
Dyspnea |
|
|
|
|
132 / 7739
|
|
16
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
17
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
|
18
|
(HPO:0002970)
|
Genu varum |
|
|
|
|
60 / 7739
|
|
19
|
(HPO:0003100)
|
Slender long bone |
|
|
|
|
45 / 7739
|
|
20
|
(HPO:0003187)
|
Breast hypoplasia |
|
|
|
|
17 / 7739
|
|
21
|
(HPO:0003561)
|
Birth length less than 3rd percentile |
|
|
|
|
10 / 7739
|
|
22
|
(HPO:0006498)
|
Aplasia/Hypoplasia of the patella |
|
|
|
|
10 / 7739
|
|
23
|
(HPO:0006532)
|
Recurrent pneumonia |
|
|
|
|
48 / 7739
|
|
24
|
(HPO:0006628)
|
Absent sternal ossification |
|
|
|
|
6 / 7739
|
|
25
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
26
|
(HPO:0008665)
|
Clitoral hypertrophy |
|
|
|
|
10 / 7739
|
|
27
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
28
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
29
|
(OMIM)
|
Birth weight less than 3rd percentile |
|
|
|
|
6 / 7739
|
|
30
|
(OMIM)
|
Abnormally formed ears |
|
|
|
|
2 / 7739
|
|
31
|
(HPO:0012471)
|
Thick vermilion border |
|
|
|
|
115 / 7739
|
|
32
|
(OMIM)
|
Dyspnea secondary to thorax morphology |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Feeding problems in early infancy |
|
|
|
|
3 / 7739
|
|
34
|
(OMIM)
|
Frontal circular lacuna |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Abnormal humeral epiphyses with flat metaphyses |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Abnormal femoral epiphyses with flat metaphyses |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Abnormal tibial epiphyses |
|
|
|
|
1 / 7739
|
|
38
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
|
39
|
(HPO:0011431)
|
Fetal fifth finger clinodactyly |
|
|
|
|
14 / 7739
|
|
40
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|