1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
2
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
3
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
4
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
5
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
6
|
(HPO:0000239)
|
Large fontanelles |
|
|
|
|
135 / 7739
|
7
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
|
|
55 / 7739
|
8
|
(HPO:0000270)
|
Delayed cranial suture closure |
|
|
|
|
33 / 7739
|
9
|
(HPO:0001476)
|
Delayed closure of the anterior fontanelle |
|
|
|
|
23 / 7739
|
10
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
11
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
12
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
13
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
14
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
15
|
(HPO:0000368)
|
Low-set, posteriorly rotated ears |
|
|
|
|
38 / 7739
|
16
|
(HPO:0000452)
|
Choanal stenosis |
|
|
|
|
23 / 7739
|
17
|
(HPO:0000453)
|
Choanal atresia |
|
|
|
|
76 / 7739
|
18
|
(HPO:0004502)
|
Bilateral choanal atresia |
|
|
|
|
2 / 7739
|
19
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
20
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
21
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
22
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
23
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
24
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
25
|
(HPO:0000914)
|
Shield chest |
|
|
|
|
14 / 7739
|
26
|
(HPO:0001552)
|
Barrel-shaped chest |
|
|
|
|
31 / 7739
|
27
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
28
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
29
|
(HPO:0001671)
|
Abnormality of the cardiac septa |
|
|
|
|
55 / 7739
|
30
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
31
|
(HPO:0011648)
|
Patent ductus arteriosus after birth at term |
|
|
|
|
18 / 7739
|
32
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
33
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
34
|
(HPO:0002738)
|
Hypoplastic frontal sinuses |
|
|
|
|
6 / 7739
|
35
|
(HPO:0002777)
|
Tracheal stenosis |
|
|
|
|
35 / 7739
|
36
|
(HPO:0002868)
|
Narrow iliac wings |
|
|
|
|
15 / 7739
|
37
|
(HPO:0002901)
|
Hypocalcemia |
|
|
|
|
56 / 7739
|
38
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
39
|
(HPO:0011431)
|
Fetal fifth finger clinodactyly |
|
|
|
|
14 / 7739
|
40
|
(HPO:0004279)
|
Short palm |
|
|
|
|
323 / 7739
|
41
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
42
|
(HPO:0006610)
|
Wide intermamillary distance |
|
|
|
|
46 / 7739
|
43
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
44
|
(HPO:0011467)
|
Absent gallbladder |
|
|
|
|
6 / 7739
|
45
|
(HPO:0011611)
|
Interrupted aortic arch |
|
|
|
|
10 / 7739
|
46
|
(HPO:0200055)
|
Small hand |
|
|
|
|
71 / 7739
|
47
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
48
|
(HPO:0009117)
|
Aplasia/Hypoplasia of the maxilla |
|
|
|
|
18 / 7739
|
49
|
(OMIM)
|
Soft tissue growths at angle of mouth (female) |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Widened suture |
|
|
|
|
4 / 7739
|
51
|
(OMIM)
|
Absent/hypoplastic frontal sinuses (female) |
|
|
|
|
1 / 7739
|
52
|
(OMIM)
|
Cortical thickening of long bones (female) |
|
|
|
|
1 / 7739
|
53
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
54
|
(OMIM)
|
Excessive number of fingerprint arches (female) |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
Cortical thickening of metacarpals (female) |
|
|
|
|
1 / 7739
|
56
|
(HPO:0001786)
|
Narrow foot |
|
|
|
|
11 / 7739
|
57
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
58
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
59
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
60
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
61
|
(OMIM)
|
Small toenails |
|
|
|
|
2 / 7739
|
62
|
(OMIM)
|
IQ 85-115 (female) |
|
|
|
|
1 / 7739
|
63
|
(OMIM)
|
Decreased brain volume (female) |
|
|
|
|
1 / 7739
|
64
|
(OMIM)
|
Extra superior temporal gyrus (female) |
|
|
|
|
1 / 7739
|
65
|
(OMIM)
|
Two-vessel umbilical cord (male) |
|
|
|
|
1 / 7739
|
66
|
(OMIM)
|
Normal calcium (female) |
|
|
|
|
1 / 7739
|
67
|
(OMIM)
|
Normal parathyroid hormone |
|
|
|
|
2 / 7739
|
68
|
(OMIM)
|
Skewed X-inactivation in females |
|
|
|
|
1 / 7739
|
69
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
70
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|
71
|
(HPO:0012745)
|
Short palpebral fissure |
|
|
|
|
47 / 7739
|