1
|
(HPO:0002007)
|
Frontal bossing |
Occasional [Orphanet]
|
|
|
|
366 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Occasional [Orphanet]
9/18 [HPO]
|
|
19372089
|
IBIS
|
990 / 7739
|
4
|
(HPO:0000717)
|
Autism |
Occasional [Orphanet]
|
|
|
|
108 / 7739
|
5
|
(HPO:0000752)
|
Hyperactivity |
Occasional [Orphanet]
|
|
|
|
140 / 7739
|
6
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
4/19 [HPO]
|
|
19372089
|
IBIS
|
288 / 7739
|
7
|
(HPO:0000411)
|
Protruding ear |
Occasional [Orphanet]
|
|
|
|
140 / 7739
|
8
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
2/18 [HPO]
|
|
19372089
|
IBIS
|
1245 / 7739
|
9
|
(HPO:0000995)
|
Melanocytic nevus |
Occasional [Orphanet]
|
|
|
|
63 / 7739
|
10
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
11
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
3/19 [HPO]
|
|
19372089
|
IBIS
|
576 / 7739
|
12
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
13
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
14
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
15
|
(HPO:0000256)
|
Macrocephaly |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
16
|
(HPO:0001328)
|
Specific learning disability |
7/25 [HPO]
|
|
19372089
|
IBIS
|
114 / 7739
|
17
|
(HPO:0000316)
|
Hypertelorism |
3/19 [HPO]
|
|
19372089
|
IBIS
|
644 / 7739
|
18
|
(HPO:0000664)
|
Synophrys |
3/19 [HPO]
|
|
19372089
|
IBIS
|
112 / 7739
|
19
|
(HPO:0000708)
|
Behavioral abnormality |
10/19 [HPO]
Occasional [Orphanet]
|
|
19372089
|
IBIS
|
212 / 7739
|
20
|
(HPO:0001156)
|
Brachydactyly syndrome |
3/19 [HPO]
|
|
19372089
|
IBIS
|
180 / 7739
|
21
|
(HPO:0001256)
|
Intellectual disability, mild |
5/17 [HPO]
|
|
19372089
|
IBIS
|
141 / 7739
|
22
|
(HPO:0001999)
|
Abnormal facial shape |
typical [HPO]
|
|
19372089
|
IBIS
|
169 / 7739
|
23
|
(HPO:0002342)
|
Intellectual disability, moderate |
6/17 [HPO]
|
|
19372089
|
IBIS
|
37 / 7739
|
24
|
(HPO:0005105)
|
Abnormal nasal morphology |
Occasional [Orphanet]
|
|
|
|
114 / 7739
|
25
|
(HPO:0008050)
|
Abnormality of the palpebral fissures |
7/19 [HPO]
|
|
19372089
|
IBIS
|
3 / 7739
|
26
|
(HPO:0010864)
|
Intellectual disability, severe |
3/18 [HPO]
|
|
19372089
|
IBIS
|
120 / 7739
|
27
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Occasional [Orphanet]
|
|
|
|
85 / 7739
|
28
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
29
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
30
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
31
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
32
|
(HPO:0000377)
|
Abnormality of the pinna |
6/19 [HPO]
|
|
|
|
111 / 7739
|
33
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
34
|
(HPO:0003829)
|
Incomplete penetrance |
50% [HPO]
|
|
|
|
85 / 7739
|
35
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
3/19 [HPO]
|
|
|
|
355 / 7739
|