|
1
|
(HPO:0009800)
|
Maternal diabetes |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
|
2
|
(HPO:0001199)
|
Triphalangeal thumb |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
|
3
|
(HPO:0000625)
|
Cleft eyelid |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
|
4
|
(HPO:0001545)
|
Anteriorly placed anus |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
|
5
|
(HPO:0000405)
|
Conductive hearing impairment |
Occasional [Orphanet]
|
|
|
|
164 / 7739
|
|
6
|
(HPO:0000202)
|
Oral cleft |
Frequent [Orphanet]
|
|
|
|
120 / 7739
|
|
7
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Very frequent [Orphanet]
|
|
|
|
355 / 7739
|
|
8
|
(HPO:0000154)
|
Wide mouth |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
|
9
|
(HPO:0011390)
|
Morphological abnormality of the inner ear |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
|
10
|
(HPO:0000413)
|
Atresia of the external auditory canal |
|
|
|
|
32 / 7739
|
|
11
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
12
|
(HPO:0000072)
|
Hydroureter |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
13
|
(HPO:0001177)
|
Preaxial hand polydactyly |
Occasional [Orphanet]
|
|
|
|
59 / 7739
|
|
14
|
(HPO:0000308)
|
Microretrognathia |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
15
|
(HPO:0004452)
|
Abnormality of the middle ear ossicles |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
16
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
17
|
(HPO:0011331)
|
Hemifacial atrophy |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
18
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
19
|
(HPO:0000384)
|
Preauricular skin tag |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
20
|
(HPO:0006695)
|
Atrioventricular canal defect |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
21
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
22
|
(HPO:0004467)
|
Preauricular pit |
|
|
|
|
39 / 7739
|
|
23
|
(HPO:0009796)
|
Branchial cyst |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
24
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
25
|
(HPO:0000078)
|
Abnormality of the genital system |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
|
26
|
(HPO:0003422)
|
Vertebral segmentation defect |
Frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
27
|
(HPO:0003778)
|
Short mandibular rami |
|
|
|
|
7 / 7739
|
|
28
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
|
29
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
|
30
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Frequent [Orphanet]
|
|
|
|
127 / 7739
|
|
31
|
(HPO:0009943)
|
Complete duplication of thumb phalanx |
|
|
|
|
8 / 7739
|
|
32
|
(OMIM)
|
Radial limb defects |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Thumb duplication |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Hemifacial microsomia |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Skin tags at mandibular angle |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Multiple preauricular ear tags and pits |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0008772)
|
Aplasia/Hypoplasia of the external ear |
Very frequent [Orphanet]
|
|
|
|
67 / 7739
|
|
38
|
(HPO:0000372)
|
Abnormality of the auditory canal |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
39
|
(HPO:0000204)
|
Cleft upper lip |
Occasional [Orphanet]
|
|
|
|
193 / 7739
|
|
40
|
(HPO:0200040)
|
Epidermoid cyst |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
41
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
42
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
43
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
44
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
45
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
|
46
|
(HPO:0100335)
|
Non-midline cleft lip |
|
|
|
|
12 / 7739
|