|
1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
2
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
3
|
(HPO:0000215)
|
Thick upper lip vermilion |
|
|
|
|
17 / 7739
|
|
4
|
(HPO:0000270)
|
Delayed cranial suture closure |
|
|
|
|
33 / 7739
|
|
5
|
(HPO:0000308)
|
Microretrognathia |
|
|
|
|
78 / 7739
|
|
6
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
7
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
|
8
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
9
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
10
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
|
11
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
12
|
(HPO:0000973)
|
Cutis laxa |
|
|
|
|
43 / 7739
|
|
13
|
(HPO:0001582)
|
Redundant skin |
|
|
|
|
51 / 7739
|
|
14
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
15
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
16
|
(HPO:0001664)
|
Torsade de pointes |
|
|
|
|
15 / 7739
|
|
17
|
(HPO:0002000)
|
Short columella |
|
|
|
|
11 / 7739
|
|
18
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
19
|
(HPO:0002213)
|
Fine hair |
rare [HPO:skoehler]
|
|
|
|
77 / 7739
|
|
20
|
(HPO:0002650)
|
Scoliosis |
rare [HPO:skoehler]
|
|
|
|
705 / 7739
|
|
21
|
(HPO:0003717)
|
Minimal subcutaneous fat |
|
|
|
|
4 / 7739
|
|
22
|
(HPO:0004415)
|
Pulmonary artery stenosis |
|
|
|
|
25 / 7739
|
|
23
|
(HPO:0004755)
|
Supraventricular tachycardia |
|
|
|
|
20 / 7739
|
|
24
|
(HPO:0004756)
|
Ventricular tachycardia |
|
|
|
|
55 / 7739
|
|
25
|
(HPO:0005288)
|
Abnormality of the nares |
|
|
|
|
3 / 7739
|
|
26
|
(HPO:0006682)
|
Ventricular extrasystoles |
|
|
|
|
25 / 7739
|
|
27
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
28
|
(HPO:0009762)
|
Facial wrinkling |
|
|
|
|
3 / 7739
|
|
29
|
(HPO:0010055)
|
Broad hallux |
|
|
|
|
56 / 7739
|
|
30
|
(OMIM)
|
Wrinkled forehead |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Thick eyelids |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Flared nares |
|
|
|
|
2 / 7739
|
|
33
|
(OMIM)
|
Hypoplastic alae nasai |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Protruding upper lip |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Ventral septal defect (VSD) |
|
|
|
|
2 / 7739
|
|
36
|
(HPO:0011675)
|
Arrhythmia |
|
|
|
|
226 / 7739
|
|
37
|
(OMIM)
|
Premature atrial contraction (PAC) |
|
|
|
|
3 / 7739
|
|
38
|
(OMIM)
|
Cutaneous capillary malformations |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Hypotonia progressing to hypertonia |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|