|
1
|
(HPO:0000490)
|
Deeply set eye |
Very frequent [Orphanet]
|
|
|
|
131 / 7739
|
|
2
|
(HPO:0001182)
|
Tapered finger |
Occasional [Orphanet]
|
|
|
|
93 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0000767)
|
Pectus excavatum |
Occasional [Orphanet]
|
|
|
|
244 / 7739
|
|
5
|
(HPO:0001956)
|
Truncal obesity |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
6
|
(HPO:0000272)
|
Malar flattening |
Frequent [Orphanet]
|
|
|
|
277 / 7739
|
|
7
|
(HPO:0000954)
|
Single transverse palmar crease |
Occasional [Orphanet]
|
|
|
|
162 / 7739
|
|
8
|
(HPO:0000995)
|
Melanocytic nevus |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
|
9
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
10
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
|
11
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
12
|
(HPO:0002714)
|
Downturned corners of mouth |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
13
|
(HPO:0000322)
|
Short philtrum |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
14
|
(HPO:0002967)
|
Cubitus valgus |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
15
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
16
|
(HPO:0002342)
|
Intellectual disability, moderate |
|
|
|
|
37 / 7739
|
|
17
|
(OMIM)
|
Truncal obesity, mild |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Inverted 'V-shaped' mouth |
|
|
|
|
3 / 7739
|
|
19
|
(OMIM)
|
Nevi, multiple |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
21
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
22
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|