1
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
2
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
3
|
(HPO:0000961)
|
Cyanosis |
|
|
|
|
60 / 7739
|
4
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
6
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
7
|
(HPO:0001274)
|
Agenesis of corpus callosum |
frequent [HPO:skoehler]
|
|
|
|
142 / 7739
|
8
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
9
|
(HPO:0002179)
|
Opisthotonus |
|
|
|
|
35 / 7739
|
10
|
(HPO:0002282)
|
Heterotopia |
|
|
|
|
21 / 7739
|
11
|
(HPO:0002308)
|
Arnold-Chiari malformation |
|
|
|
|
42 / 7739
|
12
|
(HPO:0002318)
|
Cervical myelopathy |
|
|
|
|
10 / 7739
|
13
|
(HPO:0002414)
|
Spina bifida |
|
|
|
|
47 / 7739
|
14
|
(HPO:0002483)
|
Bulbar signs |
|
|
|
|
9 / 7739
|
15
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
|
|
41 / 7739
|
16
|
(HPO:0005348)
|
Inspiratory stridor |
|
|
|
|
8 / 7739
|
17
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
18
|
(HPO:0012318)
|
Occipital neuralgia |
|
|
|
|
1 / 7739
|
19
|
(OMIM)
|
Expiratory apnea with cyanosis |
|
|
|
|
1 / 7739
|
20
|
(MedDRA:10008589)
|
Choking |
|
|
|
|
6 / 7739
|
21
|
(OMIM)
|
Herniation and elongation of the cerebellar tonsils, cerebellar vermis, brainstem, and fourth ventricle through the foramen magnum |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Small, thin cerebellum |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Absent cisterna magna |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Polygyria |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Ventricular anomalies |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Partial or total agenesis of the corpus callosum (33%) |
|
|
|
|
1 / 7739
|
27
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
28
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
29
|
(OMIM)
|
Upper limb weakness |
|
|
|
|
5 / 7739
|
30
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
31
|
(HPO:0002315)
|
Headache |
|
|
|
|
175 / 7739
|
32
|
(OMIM)
|
Subnormal intelligence (62%) |
|
|
|
|
1 / 7739
|
33
|
(HPO:0010301)
|
Spinal dysraphism |
|
|
|
|
14 / 7739
|
34
|
(OMIM)
|
Associated with syringomyelia (186700) |
|
|
|
|
1 / 7739
|
35
|
(HPO:0001426)
|
Multifactorial inheritance |
|
|
|
|
37 / 7739
|