1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
2
|
(HPO:0000041)
|
Chordee |
|
|
|
|
11 / 7739
|
3
|
(HPO:0000046)
|
Scrotal hypoplasia |
|
|
|
|
54 / 7739
|
4
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
5
|
(HPO:0000048)
|
Bifid scrotum |
|
|
|
|
36 / 7739
|
6
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
7
|
(HPO:0000057)
|
Clitoromegaly |
|
|
|
|
30 / 7739
|
8
|
(HPO:0000062)
|
Ambiguous genitalia |
Occasional [HPO:probinson]
|
|
|
|
74 / 7739
|
9
|
(HPO:0000066)
|
Labial hypoplasia |
|
|
|
|
10 / 7739
|
10
|
(HPO:0000085)
|
Horseshoe kidney |
|
|
|
|
39 / 7739
|
11
|
(HPO:0000147)
|
Polycystic ovaries |
|
|
|
|
18 / 7739
|
12
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
13
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
14
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
15
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
16
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
17
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
18
|
(HPO:0000452)
|
Choanal stenosis |
|
|
|
|
23 / 7739
|
19
|
(HPO:0000453)
|
Choanal atresia |
|
|
|
|
76 / 7739
|
20
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
21
|
(HPO:0000818)
|
Abnormality of the endocrine system |
|
|
|
|
26 / 7739
|
22
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
23
|
(HPO:0001194)
|
Abnormalities of placenta or umbilical cord |
|
|
|
|
3 / 7739
|
24
|
(HPO:0001363)
|
Craniosynostosis |
|
|
|
|
132 / 7739
|
25
|
(HPO:0001438)
|
Abnormality of the abdomen |
|
|
|
|
28 / 7739
|
26
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
27
|
(HPO:0001562)
|
Oligohydramnios |
|
|
|
|
75 / 7739
|
28
|
(HPO:0001586)
|
Vesicovaginal fistula |
|
|
|
|
4 / 7739
|
29
|
(HPO:0001601)
|
Laryngomalacia |
|
|
|
|
61 / 7739
|
30
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
31
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
32
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
33
|
(HPO:0002308)
|
Arnold-Chiari malformation |
|
|
|
|
42 / 7739
|
34
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
35
|
(HPO:0002676)
|
Cloverleaf skull |
|
|
|
|
14 / 7739
|
36
|
(HPO:0002780)
|
Bronchomalacia |
|
|
|
|
7 / 7739
|
37
|
(HPO:0002937)
|
Hemivertebrae |
|
|
|
|
41 / 7739
|
38
|
(HPO:0002974)
|
Radioulnar synostosis |
|
|
|
|
52 / 7739
|
39
|
(HPO:0002980)
|
Femoral bowing |
|
|
|
|
36 / 7739
|
40
|
(HPO:0003031)
|
Ulnar bowing |
|
|
|
|
16 / 7739
|
41
|
(HPO:0003041)
|
Humeroradial synostosis |
|
|
|
|
19 / 7739
|
42
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
43
|
(HPO:0008072)
|
Maternal virilization in pregnancy |
|
|
|
|
1 / 7739
|
44
|
(HPO:0008073)
|
Low maternal serum estriol |
|
|
|
|
1 / 7739
|
45
|
(HPO:0008368)
|
Tarsal synostosis |
|
|
|
|
21 / 7739
|
46
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
47
|
(HPO:0009702)
|
Carpal synostosis |
|
|
|
|
26 / 7739
|
48
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
49
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
50
|
(OMIM)
|
Temporal bossing |
|
|
|
|
2 / 7739
|
51
|
(HPO:0001545)
|
Anteriorly placed anus |
|
|
|
|
55 / 7739
|
52
|
(OMIM)
|
Fused labia |
|
|
|
|
1 / 7739
|
53
|
(OMIM)
|
Single urogenital orifice |
|
|
|
|
1 / 7739
|
54
|
(OMIM)
|
Elbow synostosis |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
Radiohumeral synostosis |
|
|
|
|
3 / 7739
|
56
|
(OMIM)
|
Femoral fractures |
|
|
|
|
1 / 7739
|
57
|
(OMIM)
|
Adrenal crisis |
|
|
|
|
1 / 7739
|
58
|
(OMIM)
|
Normal baseline cortisol |
|
|
|
|
1 / 7739
|
59
|
(OMIM)
|
Blunted cortisol response to adrenocorticotropic hormone (ACTH) |
|
|
|
|
1 / 7739
|
60
|
(OMIM)
|
Elevated 17-hydroxyprogesterone |
|
|
|
|
1 / 7739
|
61
|
(OMIM)
|
Mildly elevated ACTH |
|
|
|
|
1 / 7739
|
62
|
(OMIM)
|
Elevated progesterone |
|
|
|
|
1 / 7739
|
63
|
(OMIM)
|
Elevated pregnenolone |
|
|
|
|
1 / 7739
|
64
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|