|
1
|
(HPO:0000308)
|
Microretrognathia |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
2
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
3
|
(HPO:0003042)
|
Elbow dislocation |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
4
|
(HPO:0000869)
|
Secondary amenorrhea |
Very frequent [Orphanet]
|
|
|
|
42 / 7739
|
|
5
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
6
|
(HPO:0010458)
|
Female pseudohermaphroditism |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
|
7
|
(HPO:0000057)
|
Clitoromegaly |
|
|
|
|
30 / 7739
|
|
8
|
(HPO:0000062)
|
Ambiguous genitalia |
|
|
|
|
74 / 7739
|
|
9
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
10
|
(HPO:0000786)
|
Primary amenorrhea |
|
|
|
|
61 / 7739
|
|
11
|
(HPO:0005790)
|
Short mandibular condyles |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0005856)
|
Ulnar radial head dislocation |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Fusion of humerus |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Marked fusion of labioscrotal folds |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Normal vagina, ovaries, tubes and uterus |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Normal female karyotype |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|