|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000340)
|
Sloping forehead |
|
|
|
|
86 / 7739
|
|
3
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
4
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
5
|
(HPO:0000742)
|
Self-mutilation |
|
|
|
|
27 / 7739
|
|
6
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
7
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
8
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
9
|
(HPO:0002305)
|
Athetosis |
|
|
|
|
31 / 7739
|
|
10
|
(HPO:0002324)
|
Hydranencephaly |
|
|
|
|
9 / 7739
|
|
11
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
|
|
54 / 7739
|
|
12
|
(HPO:0002828)
|
Multiple joint contractures |
|
|
|
|
16 / 7739
|
|
13
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
14
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
15
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
16
|
(OMIM)
|
Exophthalmia |
|
|
|
|
3 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
18
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
|
|
121 / 7739
|
|
19
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
20
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
|
21
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
22
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
23
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
24
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
|
|
41 / 7739
|
|
25
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|