|
1
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(HPO:0000033)
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Ambiguous genitalia, male |
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|
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9 / 7739
|
|
2
|
(HPO:0000061)
|
Ambiguous genitalia, female |
|
|
|
|
8 / 7739
|
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3
|
(HPO:0000126)
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Hydronephrosis |
|
|
|
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119 / 7739
|
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4
|
(HPO:0000171)
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Microglossia |
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|
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27 / 7739
|
|
5
|
(HPO:0000175)
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Cleft palate |
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|
|
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349 / 7739
|
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6
|
(HPO:0000238)
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Hydrocephalus |
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|
|
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278 / 7739
|
|
7
|
(HPO:0000347)
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Micrognathia |
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|
|
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426 / 7739
|
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8
|
(HPO:0000482)
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Microcornea |
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|
|
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102 / 7739
|
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9
|
(HPO:0000568)
|
Microphthalmia |
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|
|
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183 / 7739
|
|
10
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
11
|
(HPO:0000882)
|
Hypoplastic scapulae |
|
|
|
|
28 / 7739
|
|
12
|
(HPO:0000890)
|
Long clavicles |
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|
|
|
13 / 7739
|
|
13
|
(HPO:0001239)
|
Wrist flexion contracture |
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|
|
|
13 / 7739
|
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14
|
(HPO:0001591)
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Bell-shaped thorax |
|
|
|
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35 / 7739
|
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15
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
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309 / 7739
|
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16
|
(HPO:0001770)
|
Toe syndactyly |
|
|
|
|
149 / 7739
|
|
17
|
(HPO:0002324)
|
Hydranencephaly |
|
|
|
|
9 / 7739
|
|
18
|
(HPO:0002866)
|
Hypoplastic iliac wing |
|
|
|
|
34 / 7739
|
|
19
|
(HPO:0002990)
|
Fibular aplasia |
|
|
|
|
16 / 7739
|
|
20
|
(HPO:0003027)
|
Mesomelia |
|
|
|
|
58 / 7739
|
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21
|
(HPO:0003083)
|
Dislocated radial head |
|
|
|
|
35 / 7739
|
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22
|
(HPO:0003173)
|
Hypoplastic pubic bone |
|
|
|
|
8 / 7739
|
|
23
|
(HPO:0003175)
|
Hypoplastic ischia |
|
|
|
|
12 / 7739
|
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24
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
|
25
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
|
|
50 / 7739
|
|
26
|
(HPO:0004692)
|
4-5 toe syndactyly |
|
|
|
|
6 / 7739
|
|
27
|
(HPO:0006077)
|
Absent proximal finger flexion creases |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0008472)
|
Prominent protruding coccyx |
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|
|
|
1 / 7739
|
|
29
|
(HPO:0008488)
|
Anterior rounding of vertebral bodies |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0008905)
|
Rhizomelia |
|
|
|
|
85 / 7739
|
|
31
|
(HPO:0009085)
|
Alveolar ridge overgrowth |
|
|
|
|
4 / 7739
|
|
32
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
|
33
|
(HPO:0009937)
|
Facial hirsutism |
|
|
|
|
4 / 7739
|
|
34
|
(HPO:0011266)
|
Microtia, first degree |
|
|
|
|
4 / 7739
|
|
35
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
|
36
|
(HPO:0003498)
|
Disproportionate short stature |
|
|
|
|
28 / 7739
|
|
37
|
(OMIM)
|
Small, simple ears |
|
|
|
|
2 / 7739
|
|
38
|
(HPO:0000062)
|
Ambiguous genitalia |
|
|
|
|
74 / 7739
|
|
39
|
(HPO:0000946)
|
Hypoplastic ilia |
|
|
|
|
21 / 7739
|
|
40
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
|
41
|
(HPO:0009700)
|
Finger symphalangism |
|
|
|
|
55 / 7739
|
|
42
|
(HPO:0010621)
|
Cutaneous syndactyly of toes |
|
|
|
|
36 / 7739
|
|
43
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
44
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
|
45
|
(HPO:0012745)
|
Short palpebral fissure |
|
|
|
|
47 / 7739
|