|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
3
|
(HPO:0000384)
|
Preauricular skin tag |
|
|
|
|
62 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
6
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
7
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
8
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
|
9
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
10
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
|
11
|
(OMIM)
|
Retardation |
|
|
|
|
2 / 7739
|
|
12
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
|
13
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|