|
1
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000256)
|
Macrocephaly |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
4
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
5
|
(HPO:0000293)
|
Full cheeks |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
6
|
(HPO:0000311)
|
Round face |
Frequent [Orphanet]
|
|
|
|
104 / 7739
|
|
7
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
|
8
|
(HPO:0000426)
|
Prominent nasal bridge |
Frequent [Orphanet]
|
|
|
|
121 / 7739
|
|
9
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
10
|
(HPO:0000545)
|
Myopia |
Occasional [Orphanet]
|
|
|
|
286 / 7739
|
|
11
|
(HPO:0000581)
|
Blepharophimosis |
Frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
12
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
|
13
|
(HPO:0000717)
|
Autism |
Occasional [Orphanet]
|
|
|
|
108 / 7739
|
|
14
|
(HPO:0001182)
|
Tapered finger |
Occasional [Orphanet]
|
|
|
|
93 / 7739
|
|
15
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
16
|
(HPO:0001513)
|
Obesity |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
17
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
18
|
(HPO:0002353)
|
EEG abnormality |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
19
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
|
20
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
|
|
288 / 7739
|
|
21
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
|
22
|
(HPO:0005105)
|
Abnormal nasal morphology |
Occasional [Orphanet]
|
|
|
|
114 / 7739
|
|
23
|
(HPO:0002591)
|
Polyphagia |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
24
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
25
|
(HPO:0000248)
|
Brachycephaly |
Frequent [Orphanet]
|
|
|
|
222 / 7739
|
|
26
|
(HPO:0000752)
|
Hyperactivity |
Occasional [Orphanet]
|
|
|
|
140 / 7739
|
|
27
|
(HPO:0004279)
|
Short palm |
Occasional [Orphanet]
|
|
|
|
323 / 7739
|
|
28
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
29
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
30
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
31
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
32
|
(HPO:0400004)
|
Long ear |
Frequent [Orphanet]
|
|
|
|
94 / 7739
|