|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
|
3
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
4
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
|
5
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
6
|
(HPO:0000733)
|
Stereotypy |
|
|
|
|
58 / 7739
|
|
7
|
(HPO:0000739)
|
Anxiety |
|
|
|
|
67 / 7739
|
|
8
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
9
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
10
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
11
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
12
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
13
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
|
14
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|