1
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
3
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
4
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
5
|
(HPO:0009738)
|
Abnormality of the antihelix |
Very frequent [Orphanet]
|
|
|
|
37 / 7739
|
6
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
7
|
(HPO:0000411)
|
Protruding ear |
Very frequent [Orphanet]
|
|
|
|
140 / 7739
|
8
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
9
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
10
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Very frequent [Orphanet]
|
|
|
|
185 / 7739
|
11
|
(HPO:0009748)
|
Large earlobe |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
12
|
(HPO:0000413)
|
Atresia of the external auditory canal |
|
|
|
|
32 / 7739
|
13
|
(HPO:0001177)
|
Preaxial hand polydactyly |
Frequent [Orphanet]
|
|
|
|
59 / 7739
|
14
|
(HPO:0011800)
|
Midface retrusion |
Very frequent [Orphanet]
|
|
|
|
221 / 7739
|
15
|
(HPO:0000506)
|
Telecanthus |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
16
|
(HPO:0000243)
|
Trigonocephaly |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
17
|
(HPO:0010285)
|
Oral synechia |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
18
|
(HPO:0000396)
|
Overfolded helix |
|
|
|
|
21 / 7739
|
19
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
20
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
Occasional [HPO:skoehler]
|
|
|
|
1245 / 7739
|
21
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
22
|
(HPO:0000384)
|
Preauricular skin tag |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
23
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [Orphanet]
|
|
|
|
524 / 7739
|
24
|
(HPO:0009912)
|
Abnormality of the tragus |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
25
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
26
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
27
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
28
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
29
|
(HPO:0000452)
|
Choanal stenosis |
|
|
|
|
23 / 7739
|
30
|
(HPO:0000453)
|
Choanal atresia |
|
|
|
|
76 / 7739
|
31
|
(HPO:0004502)
|
Bilateral choanal atresia |
|
|
|
|
2 / 7739
|
32
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
33
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
34
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
35
|
(HPO:0001238)
|
Slender finger |
|
|
|
|
23 / 7739
|
36
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [HPO:skoehler]
|
|
|
|
316 / 7739
|
37
|
(HPO:0002002)
|
Deep philtrum |
|
|
|
|
42 / 7739
|
38
|
(HPO:0002032)
|
Esophageal atresia |
rare [HPO:skoehler]
|
|
|
|
19 / 7739
|
39
|
(HPO:0002043)
|
Esophageal stricture |
|
|
|
|
7 / 7739
|
40
|
(HPO:0010450)
|
Esophageal stenosis |
|
|
|
|
7 / 7739
|
41
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
42
|
(HPO:0002880)
|
Respiratory difficulties |
|
|
|
|
15 / 7739
|
43
|
(HPO:0005321)
|
Mandibulofacial dysostosis |
|
|
|
|
7 / 7739
|
44
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
45
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
46
|
(HPO:0009623)
|
Proximal placement of thumb |
Occasional [HPO:skoehler]
|
|
|
|
50 / 7739
|
47
|
(HPO:0000253)
|
Progressive microcephaly |
|
|
|
|
37 / 7739
|
48
|
(OMIM)
|
Buccal tags |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Hypoplasia of the upper part of the helix |
|
|
|
|
1 / 7739
|
50
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
51
|
(OMIM)
|
Breathing difficulties due to choanal atresia |
|
|
|
|
1 / 7739
|
52
|
(HPO:0100258)
|
Preaxial polydactyly |
|
|
|
|
39 / 7739
|
53
|
(OMIM)
|
Severe speech delay |
|
|
|
|
4 / 7739
|
54
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
55
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
56
|
(HPO:0008544)
|
Abnormally folded helix |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
57
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
58
|
(HPO:0000372)
|
Abnormality of the auditory canal |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
59
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
60
|
(HPO:0000153)
|
Abnormality of the mouth |
Frequent [Orphanet]
|
|
|
|
60 / 7739
|
61
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
62
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
63
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
64
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|