|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000308)
|
Microretrognathia |
|
|
|
|
78 / 7739
|
|
3
|
(HPO:0000729)
|
Autistic behavior |
|
|
|
|
27 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
7
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
8
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
9
|
(HPO:0004976)
|
Knee dislocation |
|
|
|
|
6 / 7739
|
|
10
|
(HPO:0100490)
|
Camptodactyly of finger |
|
|
|
|
212 / 7739
|
|
11
|
(OMIM)
|
Dysplasia of the acetabulae |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Deviation of the distal phalanges |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Swan-neck deformities of the distal phalanges |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
15
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
16
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
17
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
18
|
(OMIM)
|
Delayed fine motor skills |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0007270)
|
Atypical absence seizures |
|
|
|
|
3 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
21
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|