|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
3
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
|
4
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
5
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
6
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
7
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
8
|
(HPO:0000895)
|
Lateral clavicle hook |
|
|
|
|
11 / 7739
|
|
9
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
10
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
11
|
(HPO:0002097)
|
Emphysema |
|
|
|
|
40 / 7739
|
|
12
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
13
|
(HPO:0002816)
|
Genu recurvatum |
|
|
|
|
30 / 7739
|
|
14
|
(HPO:0003100)
|
Slender long bone |
|
|
|
|
45 / 7739
|
|
15
|
(HPO:0003187)
|
Breast hypoplasia |
|
|
|
|
17 / 7739
|
|
16
|
(HPO:0003561)
|
Birth length less than 3rd percentile |
|
|
|
|
10 / 7739
|
|
17
|
(HPO:0006443)
|
Patellar aplasia |
|
|
|
|
14 / 7739
|
|
18
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
19
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
20
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
21
|
(OMIM)
|
Birth weight less than 3rd percentile |
|
|
|
|
6 / 7739
|
|
22
|
(OMIM)
|
Abnormally formed ears |
|
|
|
|
2 / 7739
|
|
23
|
(HPO:0012471)
|
Thick vermilion border |
|
|
|
|
115 / 7739
|
|
24
|
(OMIM)
|
Respiratory problems |
|
|
|
|
2 / 7739
|
|
25
|
(MedDRA:10010456)
|
Congenital emphysema |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
Abnormal glenoid fossa |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Feeding difficulties in early infancy |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
No mental retardation |
|
|
|
|
5 / 7739
|
|
29
|
(OMIM)
|
Intellect high (in some patients) |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|