|
1
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
|
2
|
(HPO:0000270)
|
Delayed cranial suture closure |
|
|
|
|
33 / 7739
|
|
3
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
4
|
(HPO:0000957)
|
Cafe-au-lait spot |
|
|
|
|
84 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0001402)
|
Hepatocellular carcinoma |
|
|
|
|
25 / 7739
|
|
7
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
8
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
9
|
(HPO:0002667)
|
Nephroblastoma |
|
|
|
|
30 / 7739
|
|
10
|
(HPO:0002714)
|
Downturned corners of mouth |
|
|
|
|
98 / 7739
|
|
11
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
12
|
(HPO:0003162)
|
Fasting hypoglycemia |
|
|
|
|
8 / 7739
|
|
13
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
|
14
|
(HPO:0005461)
|
Craniofacial disproportion |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0010957)
|
Congenital posterior urethral valve |
|
|
|
|
9 / 7739
|
|
16
|
(HPO:0100617)
|
Testicular seminoma |
|
|
|
|
3 / 7739
|
|
17
|
(OMIM)
|
Average adult male height, 149.5 cm |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Average female adult height, 138 cm |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Lateral asymmetry |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Partial or total asymmetry |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Pseudohydrocephalic appearance |
|
|
|
|
1 / 7739
|
|
22
|
(MedDRA:10060042)
|
Head circumference normal |
|
|
|
|
5 / 7739
|
|
23
|
(OMIM)
|
Small, triangular face |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Blue sclera in infancy |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Cardiac defects |
|
|
|
|
5 / 7739
|
|
26
|
(OMIM)
|
Asymmetry of arms and/or legs |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Fifth digit middle or distal phalangeal hypoplasia |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Syndactyly of 2nd-3rd toes |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Growth hormone deficiency in some individuals |
|
|
|
|
1 / 7739
|
|
30
|
(MedDRA:10011318)
|
Craniopharyngioma |
|
|
|
|
1 / 7739
|