|
1
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
2
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
3
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
4
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
5
|
(HPO:0000567)
|
Chorioretinal coloboma |
|
|
|
|
26 / 7739
|
|
6
|
(HPO:0000772)
|
Abnormality of the ribs |
|
|
|
|
146 / 7739
|
|
7
|
(HPO:0000932)
|
Abnormality of the posterior cranial fossa |
|
|
|
|
5 / 7739
|
|
8
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
9
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
10
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
11
|
(HPO:0002104)
|
Apnea |
|
|
|
|
106 / 7739
|
|
12
|
(HPO:0002245)
|
Meckel diverticulum |
|
|
|
|
12 / 7739
|
|
13
|
(HPO:0006817)
|
Aplasia/Hypoplasia of the cerebellar vermis |
|
|
|
|
15 / 7739
|
|
14
|
(HPO:0006956)
|
Dilation of lateral ventricles |
|
|
|
|
13 / 7739
|
|
15
|
(HPO:0011398)
|
Central hypotonia |
|
|
|
|
12 / 7739
|
|
16
|
(OMIM)
|
Aberrant origin of right subclavian artery |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Hyperpnea, periodic Apnea, periodic |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Thirteen ribs |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
20
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
21
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
22
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
23
|
(OMIM)
|
Agenesis or severe hypoplasia of cerebellar vermis |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Severely delayed psychomotor development |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Open Sylvian fissures |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Misshapen posterior fossa |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|