|
1
|
(HPO:0003019)
|
Abnormality of the wrist |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
2
|
(HPO:0000130)
|
Abnormality of the uterus |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
3
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|
|
4
|
(HPO:0009380)
|
Aplasia of the fingers |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
5
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
6
|
(HPO:0000821)
|
Hypothyroidism |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
|
7
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Occasional [Orphanet]
|
|
|
|
119 / 7739
|
|
8
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
9
|
(HPO:0009811)
|
Abnormality of the elbow |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
10
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
11
|
(HPO:0002997)
|
Abnormality of the ulna |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
12
|
(HPO:0000054)
|
Micropenis |
Frequent [Orphanet]
|
|
|
|
257 / 7739
|
|
13
|
(HPO:0003027)
|
Mesomelia |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
14
|
(HPO:0003063)
|
Abnormality of the humerus |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
|
15
|
(HPO:0007477)
|
Abnormal dermatoglyphics |
Frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
16
|
(HPO:0003762)
|
Uterus didelphys |
|
|
|
|
8 / 7739
|
|
17
|
(HPO:0008740)
|
Longitudinal vaginal septum |
|
|
|
|
3 / 7739
|
|
18
|
(OMIM)
|
Upper limb hypoplasia |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0100259)
|
Postaxial polydactyly |
|
|
|
|
85 / 7739
|
|
20
|
(HPO:0100257)
|
Ectrodactyly |
|
|
|
|
27 / 7739
|
|
21
|
(OMIM)
|
Mullerian duct anomalies |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Intact hymen |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|