1
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
2
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
3
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
4
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [Orphanet]
|
|
|
|
524 / 7739
|
5
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
6
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
7
|
(HPO:0000506)
|
Telecanthus |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
8
|
(HPO:0000600)
|
Abnormality of the pharynx |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
9
|
(HPO:0000767)
|
Pectus excavatum |
Occasional [Orphanet]
|
|
|
|
244 / 7739
|
10
|
(HPO:0000768)
|
Pectus carinatum |
Occasional [Orphanet]
|
|
|
|
136 / 7739
|
11
|
(HPO:0001608)
|
Abnormality of the voice |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
12
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
13
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
14
|
(HPO:0005487)
|
Prominent metopic ridge |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
15
|
(HPO:0009804)
|
Reduced number of teeth |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
16
|
(HPO:0011069)
|
Increased number of teeth |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
17
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
18
|
(HPO:0000202)
|
Oral cleft |
Occasional [Orphanet]
|
|
|
|
120 / 7739
|
19
|
(HPO:0000239)
|
Large fontanelles |
Occasional [Orphanet]
|
|
|
|
135 / 7739
|
20
|
(HPO:0000047)
|
Hypospadias |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
21
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
22
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
23
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
24
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
25
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
26
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
27
|
(HPO:0000048)
|
Bifid scrotum |
|
|
|
|
36 / 7739
|
28
|
(HPO:0000069)
|
Abnormality of the ureter |
|
|
|
|
47 / 7739
|
29
|
(HPO:0000077)
|
Abnormality of the kidney |
|
|
|
|
73 / 7739
|
30
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
31
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
32
|
(HPO:0000200)
|
Short lingual frenulum |
|
|
|
|
4 / 7739
|
33
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
34
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
35
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
36
|
(HPO:0000267)
|
Cranial asymmetry |
|
|
|
|
6 / 7739
|
37
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
38
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
39
|
(HPO:0000349)
|
Widow's peak |
|
|
|
|
26 / 7739
|
40
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
41
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
42
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
43
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
44
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
45
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
46
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
47
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
|
|
|
|
57 / 7739
|
48
|
(HPO:0001363)
|
Craniosynostosis |
rare [HPO:skoehler]
|
|
|
|
132 / 7739
|
49
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
50
|
(HPO:0001540)
|
Diastasis recti |
|
|
|
|
23 / 7739
|
51
|
(HPO:0001612)
|
Weak cry |
|
|
|
|
17 / 7739
|
52
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
53
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
54
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
55
|
(HPO:0001680)
|
Coarctation of aorta |
|
|
|
|
57 / 7739
|
56
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
57
|
(HPO:0002023)
|
Anal atresia |
|
|
|
|
135 / 7739
|
58
|
(HPO:0002025)
|
Anal stenosis |
|
|
|
|
23 / 7739
|
59
|
(HPO:0002036)
|
Hiatus hernia |
|
|
|
|
24 / 7739
|
60
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
61
|
(HPO:0002092)
|
Pulmonary hypertension |
|
|
|
|
109 / 7739
|
62
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
63
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
64
|
(HPO:0002389)
|
Cavum septum pellucidum |
|
|
|
|
13 / 7739
|
65
|
(HPO:0002575)
|
Tracheoesophageal fistula |
|
|
|
|
54 / 7739
|
66
|
(HPO:0002835)
|
Aspiration |
|
|
|
|
11 / 7739
|
67
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
68
|
(HPO:0006817)
|
Aplasia/Hypoplasia of the cerebellar vermis |
|
|
|
|
15 / 7739
|
69
|
(HPO:0008751)
|
Laryngeal cleft |
|
|
|
|
5 / 7739
|
70
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
71
|
(HPO:0011467)
|
Absent gallbladder |
|
|
|
|
6 / 7739
|