|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000340)
|
Sloping forehead |
|
|
|
|
86 / 7739
|
|
3
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
4
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
|
5
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
6
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
|
7
|
(HPO:0000664)
|
Synophrys |
|
|
|
|
112 / 7739
|
|
8
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
|
9
|
(HPO:0000733)
|
Stereotypy |
|
|
|
|
58 / 7739
|
|
10
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
11
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
|
12
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
13
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
14
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
15
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
16
|
(OMIM)
|
Anteverted ears |
|
|
|
|
5 / 7739
|
|
17
|
(OMIM)
|
Malposition of the teeth |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Mental retardation, moderate to severe |
|
|
|
|
20 / 7739
|
|
19
|
(OMIM)
|
Severe speech delay |
|
|
|
|
4 / 7739
|
|
20
|
(OMIM)
|
Decreased circulating naive T cells (1 family) |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
22
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
23
|
(HPO:0040080)
|
Anteverted ears |
|
|
|
|
6 / 7739
|