1
|
(HPO:0000774)
|
Narrow chest |
Very frequent [Orphanet]
|
|
|
|
167 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
3
|
(HPO:0000385)
|
Small earlobe |
|
|
|
|
9 / 7739
|
4
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
5
|
(HPO:0002353)
|
EEG abnormality |
Occasional [Orphanet]
|
|
|
|
188 / 7739
|
6
|
(HPO:0002967)
|
Cubitus valgus |
Occasional [Orphanet]
|
|
|
|
49 / 7739
|
7
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
8
|
(HPO:0000154)
|
Wide mouth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
9
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
10
|
(HPO:0009553)
|
Abnormality of the hairline |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
11
|
(HPO:0200055)
|
Small hand |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
12
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
13
|
(HPO:0000664)
|
Synophrys |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
14
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
15
|
(HPO:0100490)
|
Camptodactyly of finger |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
16
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
17
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
18
|
(HPO:0000054)
|
Micropenis |
Very frequent [Orphanet]
|
|
|
|
257 / 7739
|
19
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
20
|
(HPO:0009381)
|
Short finger |
|
|
|
|
45 / 7739
|
21
|
(HPO:0000322)
|
Short philtrum |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
22
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
23
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
24
|
(HPO:0000689)
|
Dental malocclusion |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
25
|
(HPO:0000341)
|
Narrow forehead |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
26
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
27
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
28
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
29
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
30
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
31
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
32
|
(HPO:0009906)
|
Aplasia/Hypoplasia of the earlobes |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
33
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
34
|
(OMIM)
|
Hypoplastic ear lobes |
|
|
|
|
2 / 7739
|
35
|
(OMIM)
|
Small, downslanting palpebral fissures |
|
|
|
|
1 / 7739
|
36
|
(OMIM)
|
Large bulbous nose |
|
|
|
|
1 / 7739
|
37
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
38
|
(OMIM)
|
Lack of speech |
|
|
|
|
17 / 7739
|
39
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
40
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
41
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|
42
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|