|
1
|
(HPO:0000079)
|
Abnormality of the urinary system |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
|
2
|
(HPO:0000233)
|
Thin vermilion border |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
3
|
(HPO:0000325)
|
Triangular face |
Very frequent [Orphanet]
|
|
|
|
91 / 7739
|
|
4
|
(HPO:0000592)
|
Blue sclerae |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
5
|
(HPO:0000826)
|
Precocious puberty |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
|
6
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
7
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
|
8
|
(HPO:0001943)
|
Hypoglycemia |
Frequent [Orphanet]
|
|
|
|
131 / 7739
|
|
9
|
(HPO:0002714)
|
Downturned corners of mouth |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
10
|
(HPO:0002750)
|
Delayed skeletal maturation |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
11
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
13
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
14
|
(HPO:0100555)
|
Asymmetric growth |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
15
|
(HPO:0004326)
|
Cachexia |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
16
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
17
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
|
18
|
(HPO:0000069)
|
Abnormality of the ureter |
|
|
|
|
47 / 7739
|
|
19
|
(HPO:0000270)
|
Delayed cranial suture closure |
|
|
|
|
33 / 7739
|
|
20
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
21
|
(HPO:0000824)
|
Growth hormone deficiency |
|
|
|
|
56 / 7739
|
|
22
|
(HPO:0000957)
|
Cafe-au-lait spot |
|
|
|
|
84 / 7739
|
|
23
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
|
24
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
25
|
(HPO:0001402)
|
Hepatocellular carcinoma |
|
|
|
|
25 / 7739
|
|
26
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
27
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
28
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
29
|
(HPO:0002667)
|
Nephroblastoma |
|
|
|
|
30 / 7739
|
|
30
|
(HPO:0003162)
|
Fasting hypoglycemia |
|
|
|
|
8 / 7739
|
|
31
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
|
32
|
(HPO:0004220)
|
Short middle phalanx of the 5th finger |
|
|
|
|
17 / 7739
|
|
33
|
(HPO:0004227)
|
Short distal phalanx of the 5th finger |
|
|
|
|
4 / 7739
|
|
34
|
(HPO:0005461)
|
Craniofacial disproportion |
|
|
|
|
2 / 7739
|
|
35
|
(HPO:0010957)
|
Congenital posterior urethral valve |
|
|
|
|
9 / 7739
|
|
36
|
(HPO:0030062)
|
Craniopharyngioma |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0100617)
|
Testicular seminoma |
|
|
|
|
3 / 7739
|