1
|
(HPO:0100779)
|
Urogenital sinus anomaly |
Frequent [Orphanet]
|
|
|
|
5 / 7739
|
2
|
(HPO:0001545)
|
Anteriorly placed anus |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
3
|
(HPO:0000143)
|
Rectovaginal fistula |
|
|
|
|
18 / 7739
|
4
|
(HPO:0002023)
|
Anal atresia |
Occasional [Orphanet]
|
|
|
|
135 / 7739
|
5
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
6
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
7
|
(HPO:0001850)
|
Abnormality of the tarsal bones |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
8
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
9
|
(HPO:0001636)
|
Tetralogy of Fallot |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
10
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
11
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
12
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Frequent [Orphanet]
|
|
|
|
119 / 7739
|
13
|
(HPO:0002251)
|
Aganglionic megacolon |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
14
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
|
|
|
|
75 / 7739
|
15
|
(HPO:0000800)
|
Cystic renal dysplasia |
|
|
|
|
31 / 7739
|
16
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
17
|
(HPO:0001830)
|
Postaxial foot polydactyly |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
18
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
19
|
(HPO:0004383)
|
Hypoplastic left heart |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
20
|
(HPO:0004279)
|
Short palm |
Occasional [Orphanet]
|
|
|
|
323 / 7739
|
21
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
22
|
(HPO:0000795)
|
Abnormality of the urethra |
Occasional [Orphanet]
|
|
|
|
38 / 7739
|
23
|
(HPO:0000142)
|
Abnormality of the vagina |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
24
|
(HPO:0000148)
|
Vaginal atresia |
|
|
|
|
16 / 7739
|
25
|
(HPO:0000047)
|
Hypospadias |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
26
|
(HPO:0000145)
|
Transverse vaginal septum |
|
|
|
|
4 / 7739
|
27
|
(HPO:0000969)
|
Edema |
|
|
|
|
117 / 7739
|
28
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
29
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
30
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
31
|
(HPO:0001586)
|
Vesicovaginal fistula |
|
|
|
|
4 / 7739
|
32
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
33
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
34
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
35
|
(HPO:0006159)
|
Mesoaxial hand polydactyly |
|
|
|
|
5 / 7739
|
36
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
37
|
(HPO:0010741)
|
Edema of the lower limbs |
|
|
|
|
34 / 7739
|
38
|
(OMIM)
|
Vaginal stenosis |
|
|
|
|
1 / 7739
|
39
|
(HPO:0100260)
|
Mesoaxial polydactyly |
|
|
|
|
3 / 7739
|
40
|
(HPO:0100259)
|
Postaxial polydactyly |
|
|
26968886
|
IBIS
|
85 / 7739
|
41
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
42
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
43
|
(HPO:0000107)
|
Renal cyst |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
44
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
45
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
46
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
47
|
(HPO:0030010)
|
Hydrometrocolpos |
|
|
|
|
6 / 7739
|
48
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
49
|
(HPO:0005562)
|
Multiple renal cysts |
|
|
26968886
|
IBIS
|
16 / 7739
|
50
|
(HPO:0000083)
|
Renal insufficiency |
|
|
26968886
|
IBIS
|
232 / 7739
|
51
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
26968886
|
IBIS
|
266 / 7739
|
52
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
26968886
|
IBIS
|
141 / 7739
|
53
|
(HPO:0001513)
|
Obesity |
|
|
26968886
|
IBIS
|
172 / 7739
|