|
1
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
2
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
3
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
4
|
(HPO:0000337)
|
Broad forehead |
|
|
|
|
116 / 7739
|
|
5
|
(HPO:0000722)
|
Obsessive-compulsive behavior |
|
|
|
|
35 / 7739
|
|
6
|
(HPO:0000729)
|
Autistic behavior |
|
|
|
|
27 / 7739
|
|
7
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
8
|
(HPO:0001238)
|
Slender finger |
|
|
|
|
23 / 7739
|
|
9
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
10
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
11
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
12
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
13
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
14
|
(HPO:0001357)
|
Plagiocephaly |
|
|
|
|
106 / 7739
|
|
15
|
(HPO:0002312)
|
Clumsiness |
|
|
|
|
28 / 7739
|
|
16
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|
|
17
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
18
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
19
|
(HPO:0040082)
|
Happy demeanor |
|
|
|
|
6 / 7739
|