|
1
|
(HPO:0000154)
|
Wide mouth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
2
|
(HPO:0000276)
|
Long face |
Occasional [Orphanet]
|
|
|
|
109 / 7739
|
|
3
|
(HPO:0000307)
|
Pointed chin |
Frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
4
|
(HPO:0000325)
|
Triangular face |
Occasional [Orphanet]
|
|
|
|
91 / 7739
|
|
5
|
(HPO:0000341)
|
Narrow forehead |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
|
6
|
(HPO:0000343)
|
Long philtrum |
Occasional [Orphanet]
|
|
|
|
262 / 7739
|
|
7
|
(HPO:0000348)
|
High forehead |
Very frequent [Orphanet]
|
|
|
|
157 / 7739
|
|
8
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
|
9
|
(HPO:0000384)
|
Preauricular skin tag |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
|
10
|
(HPO:0000463)
|
Anteverted nares |
Occasional [Orphanet]
|
|
|
|
305 / 7739
|
|
11
|
(HPO:0000483)
|
Astigmatism |
Occasional [Orphanet]
|
|
|
|
67 / 7739
|
|
12
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
13
|
(HPO:0000545)
|
Myopia |
Occasional [Orphanet]
|
|
|
|
286 / 7739
|
|
14
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Occasional [Orphanet]
|
|
|
|
185 / 7739
|
|
15
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
|
16
|
(HPO:0000717)
|
Autism |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
17
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
18
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
|
19
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Occasional [Orphanet]
|
|
|
|
69 / 7739
|
|
20
|
(HPO:0001873)
|
Thrombocytopenia |
Frequent [Orphanet]
|
|
|
|
224 / 7739
|
|
21
|
(HPO:0001972)
|
Macrocytic anemia |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
|
22
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
23
|
(HPO:0002119)
|
Ventriculomegaly |
Frequent [Orphanet]
|
|
|
|
253 / 7739
|
|
24
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
25
|
(HPO:0002553)
|
Highly arched eyebrow |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
|
26
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
|
27
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
|
28
|
(HPO:0006315)
|
Single median maxillary incisor |
Occasional [Orphanet]
|
|
|
|
13 / 7739
|
|
29
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
30
|
(HPO:0009623)
|
Proximal placement of thumb |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
|
31
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
|
32
|
(HPO:0000411)
|
Protruding ear |
Very frequent [Orphanet]
|
|
|
|
140 / 7739
|
|
33
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
34
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
|
35
|
(HPO:0009553)
|
Abnormality of the hairline |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
|
36
|
(HPO:0002536)
|
Abnormal cortical gyration |
Frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
37
|
(HPO:0000389)
|
Chronic otitis media |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
|
38
|
(HPO:0002015)
|
Dysphagia |
Occasional [Orphanet]
|
|
|
|
301 / 7739
|
|
39
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
40
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
|
41
|
(HPO:0012471)
|
Thick vermilion border |
Occasional [Orphanet]
|
|
|
|
115 / 7739
|
|
42
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
43
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
44
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
45
|
(HPO:0001638)
|
Cardiomyopathy |
Occasional [Orphanet]
|
|
|
|
192 / 7739
|
|
46
|
(HPO:0000288)
|
Abnormality of the philtrum |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|