|
1
|
(HPO:0000130)
|
Abnormality of the uterus |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
2
|
(HPO:0009380)
|
Aplasia of the fingers |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
3
|
(HPO:0001513)
|
Obesity |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
4
|
(HPO:0000768)
|
Pectus carinatum |
Occasional [Orphanet]
|
|
|
|
136 / 7739
|
|
5
|
(HPO:0009882)
|
Short distal phalanx of finger |
Occasional [Orphanet]
|
|
|
|
125 / 7739
|
|
6
|
(HPO:0000789)
|
Infertility |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
7
|
(HPO:0001545)
|
Anteriorly placed anus |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
|
8
|
(HPO:0004370)
|
Abnormality of temperature regulation |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
9
|
(HPO:0002023)
|
Anal atresia |
Occasional [Orphanet]
|
|
|
|
135 / 7739
|
|
10
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
11
|
(HPO:0003187)
|
Breast hypoplasia |
|
|
|
|
17 / 7739
|
|
12
|
(HPO:0100783)
|
Breast aplasia |
Occasional [Orphanet]
|
|
|
|
19 / 7739
|
|
13
|
(HPO:0002997)
|
Abnormality of the ulna |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
14
|
(HPO:0003022)
|
Hypoplasia of the ulna |
|
|
|
|
40 / 7739
|
|
15
|
(HPO:0003982)
|
Absent ulna |
|
|
|
|
7 / 7739
|
|
16
|
(HPO:0003063)
|
Abnormality of the humerus |
Occasional [Orphanet]
|
|
|
|
36 / 7739
|
|
17
|
(HPO:0005792)
|
Short humerus |
|
|
|
|
34 / 7739
|
|
18
|
(HPO:0002215)
|
Sparse axillary hair |
|
|
|
|
21 / 7739
|
|
19
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
20
|
(HPO:0002818)
|
Abnormality of the radius |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
|
21
|
(HPO:0002984)
|
Hypoplasia of the radius |
|
|
|
|
44 / 7739
|
|
22
|
(HPO:0003974)
|
Absent radius |
|
|
|
|
26 / 7739
|
|
23
|
(HPO:0003019)
|
Abnormality of the wrist |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
24
|
(HPO:0000912)
|
Sprengel anomaly |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
|
25
|
(HPO:0000823)
|
Delayed puberty |
|
|
|
|
65 / 7739
|
|
26
|
(HPO:0001601)
|
Laryngomalacia |
Occasional [Orphanet]
|
|
|
|
61 / 7739
|
|
27
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
|
28
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Occasional [Orphanet]
|
|
|
|
119 / 7739
|
|
29
|
(HPO:0004050)
|
Absent hand |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
|
30
|
(HPO:0002557)
|
Hypoplastic nipples |
|
|
|
|
33 / 7739
|
|
31
|
(HPO:0006709)
|
Aplasia/Hypoplasia of the nipples |
Frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
32
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
|
33
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
34
|
(HPO:0006660)
|
Aplastic clavicles |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
35
|
(HPO:0000054)
|
Micropenis |
Frequent [Orphanet]
|
|
|
|
257 / 7739
|
|
36
|
(HPO:0002021)
|
Pyloric stenosis |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
|
37
|
(HPO:0000049)
|
Shawl scrotum |
|
|
|
|
31 / 7739
|
|
38
|
(HPO:0000882)
|
Hypoplastic scapulae |
|
|
|
|
28 / 7739
|
|
39
|
(HPO:0000894)
|
Short clavicles |
|
|
|
|
30 / 7739
|
|
40
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
|
41
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
42
|
(HPO:0001607)
|
Subglottic stenosis |
|
|
|
|
5 / 7739
|
|
43
|
(HPO:0001800)
|
Hypoplastic toenails |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
|
44
|
(HPO:0002025)
|
Anal stenosis |
|
|
|
|
23 / 7739
|
|
45
|
(HPO:0003186)
|
Inverted nipples |
|
|
|
|
15 / 7739
|
|
46
|
(HPO:0003977)
|
Deformed radius |
|
|
|
|
1 / 7739
|
|
47
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
|
48
|
(HPO:0005338)
|
Sparse lateral eyebrow |
|
|
|
|
21 / 7739
|
|
49
|
(HPO:0007397)
|
Axillary apocrine gland hypoplasia |
|
|
|
|
1 / 7739
|
|
50
|
(HPO:0008093)
|
Short 4th toe |
|
|
|
|
3 / 7739
|
|
51
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
|
52
|
(HPO:0009751)
|
Aplasia of the pectoralis major muscle |
Occasional [Orphanet]
|
|
|
|
8 / 7739
|
|
53
|
(HPO:0009804)
|
Reduced number of teeth |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
|
54
|
(HPO:0010627)
|
Anterior pituitary hypoplasia |
|
|
|
|
6 / 7739
|
|
55
|
(HPO:0011755)
|
Ectopic posterior pituitary |
|
|
|
|
4 / 7739
|
|
56
|
(HPO:0011917)
|
Short 5th toe |
|
|
|
|
2 / 7739
|
|
57
|
(HPO:0100490)
|
Camptodactyly of finger |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
|
58
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
59
|
(OMIM)
|
Scant lateral eyebrows |
|
|
|
|
1 / 7739
|
|
60
|
(OMIM)
|
Ectopic upper canines |
|
|
|
|
1 / 7739
|
|
61
|
(OMIM)
|
Wolff-Parkinson-White arrhythmia |
|
|
|
|
2 / 7739
|
|
62
|
(HPO:0000142)
|
Abnormality of the vagina |
|
|
|
|
24 / 7739
|
|
63
|
(HPO:0000148)
|
Vaginal atresia |
|
|
|
|
16 / 7739
|
|
64
|
(OMIM)
|
Hypoplastic/absent/deformed ulna |
|
|
|
|
1 / 7739
|
|
65
|
(OMIM)
|
Hypoplastic/absent/deformed radius |
|
|
|
|
1 / 7739
|
|
66
|
(OMIM)
|
Absent 3rd, 4th, and 5th ulnar rays |
|
|
|
|
1 / 7739
|
|
67
|
(HPO:0100259)
|
Postaxial polydactyly |
|
|
|
|
85 / 7739
|
|
68
|
(OMIM)
|
Short fourth and fifth toes |
|
|
|
|
1 / 7739
|
|
69
|
(OMIM)
|
Thin pituitary stalk |
|
|
|
|
1 / 7739
|
|
70
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
71
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
72
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
|
73
|
(HPO:0011025)
|
Abnormality of cardiovascular system physiology |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
|
74
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
75
|
(HPO:0030011)
|
Imperforate hymen |
|
|
|
|
2 / 7739
|