|
1
|
(HPO:0000020)
|
Urinary incontinence |
|
|
|
|
75 / 7739
|
|
2
|
(HPO:0000360)
|
Tinnitus |
|
|
|
|
29 / 7739
|
|
3
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
4
|
(HPO:0000613)
|
Photophobia |
|
|
|
|
158 / 7739
|
|
5
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
6
|
(HPO:0000651)
|
Diplopia |
|
|
|
|
37 / 7739
|
|
7
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
8
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
9
|
(HPO:0002061)
|
Lower limb spasticity |
|
|
|
|
56 / 7739
|
|
10
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
11
|
(HPO:0002315)
|
Headache |
|
|
|
|
175 / 7739
|
|
12
|
(HPO:0002317)
|
Unsteady gait |
|
|
|
|
45 / 7739
|
|
13
|
(HPO:0002321)
|
Vertigo |
|
|
|
|
58 / 7739
|
|
14
|
(HPO:0002395)
|
Lower limb hyperreflexia |
|
|
|
|
26 / 7739
|
|
15
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
16
|
(HPO:0003396)
|
Syringomyelia |
|
|
|
|
16 / 7739
|
|
17
|
(HPO:0003401)
|
Paresthesia |
|
|
|
|
42 / 7739
|
|
18
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
19
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
|
|
41 / 7739
|
|
20
|
(HPO:0005758)
|
Basilar impression |
|
|
|
|
6 / 7739
|
|
21
|
(HPO:0005759)
|
Small flat posterior fossa |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0007099)
|
Arnold-Chiari type I malformation |
|
|
|
|
18 / 7739
|
|
23
|
(HPO:0010780)
|
Hyperacusis |
|
|
|
|
5 / 7739
|
|
24
|
(HPO:0012046)
|
Areflexia of upper limbs |
|
|
|
|
2 / 7739
|
|
25
|
(HPO:0002076)
|
Migraine |
|
|
|
|
41 / 7739
|
|
26
|
(HPO:0003474)
|
Sensory impairment |
|
|
|
|
54 / 7739
|
|
27
|
(OMIM)
|
Otoneurologic disturbances |
|
|
|
|
1 / 7739
|
|
28
|
(MedDRA:10053694)
|
Saccadic eye movement |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Ocular disturbances, nonspecific |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Floaters, flashing lights, visual field cuts |
|
|
|
|
1 / 7739
|
|
31
|
(MedDRA:10028836)
|
Neck pain |
|
|
|
|
3 / 7739
|
|
32
|
(OMIM)
|
Decreased volume of posterior cranial fossa |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Compression of cerebellar cisterns |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Decreased height of supraocciput |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Increased slope of tentorium |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Decreased length of clivis |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Retroflexion of odontoid process |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Muscle atrophy in the limbs |
|
|
|
|
2 / 7739
|
|
39
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
40
|
(OMIM)
|
Spasticity of the lower limbs |
|
|
|
|
5 / 7739
|
|
41
|
(OMIM)
|
Hyperreflexia, especially of the lower limbs |
|
|
|
|
2 / 7739
|
|
42
|
(OMIM)
|
Areflexia of the upper limbs |
|
|
|
|
3 / 7739
|
|
43
|
(OMIM)
|
Upper limb weakness |
|
|
|
|
5 / 7739
|
|
44
|
(OMIM)
|
Arm pain |
|
|
|
|
2 / 7739
|
|
45
|
(HPO:0001291)
|
Abnormality of the cranial nerves |
|
|
|
|
27 / 7739
|
|
46
|
(OMIM)
|
Burning pain in the limbs |
|
|
|
|
2 / 7739
|
|
47
|
(OMIM)
|
Loss of pain and temperature in a cape-like distribution |
|
|
|
|
2 / 7739
|
|
48
|
(OMIM)
|
Touch, vibration, and limb position may or may not be affected |
|
|
|
|
2 / 7739
|
|
49
|
(OMIM)
|
Segmental sensory loss, especially of pain and temperature |
|
|
|
|
2 / 7739
|
|
50
|
(OMIM)
|
Headache, suboccipital, migraine-like (most common symptom) precipitated by coughing, sneezing, bending forward, lifting, neck extension |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
Chiari I malformation on MRI |
|
|
|
|
2 / 7739
|
|
52
|
(OMIM)
|
Herniation of the cerebellar tonsils through the foramen magnum 5 mm or greater |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Syringomyelia, noncommunicating (80% of cases) |
|
|
|
|
1 / 7739
|
|
54
|
(OMIM)
|
Decreased volume of the posterior cranial fossa with normal hindbrain volume |
|
|
|
|
1 / 7739
|
|
55
|
(OMIM)
|
Decreased CSF volume in posterior fossa |
|
|
|
|
1 / 7739
|
|
56
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|