|
1
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
2
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
3
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
4
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
5
|
(HPO:0000657)
|
Oculomotor apraxia |
|
|
|
|
54 / 7739
|
|
6
|
(HPO:0000902)
|
Rib fusion |
|
|
|
|
19 / 7739
|
|
7
|
(HPO:0001249)
|
Intellectual disability |
hallmark [HPO:skoehler]
|
|
|
|
1089 / 7739
|
|
8
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
9
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
10
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
11
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|
|
12
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
13
|
(HPO:0002267)
|
Exaggerated startle response |
|
|
|
|
42 / 7739
|
|
14
|
(HPO:0007034)
|
Generalized hyperreflexia |
|
|
|
|
33 / 7739
|
|
15
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
16
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
rare [HPO:skoehler]
|
|
|
|
161 / 7739
|
|
17
|
(HPO:0002599)
|
Head titubation |
|
|
|
|
7 / 7739
|
|
18
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
19
|
(HPO:0002835)
|
Aspiration |
|
|
|
|
11 / 7739
|
|
20
|
(HPO:0002937)
|
Hemivertebrae |
|
|
|
|
41 / 7739
|
|
21
|
(HPO:0005216)
|
Chewing difficulties |
|
|
|
|
6 / 7739
|
|
22
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
23
|
(HPO:0011448)
|
Ankle clonus |
rare [HPO:skoehler]
|
|
|
|
31 / 7739
|
|
24
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
25
|
(HPO:0012155)
|
Decreased corneal sensation |
|
|
|
|
5 / 7739
|
|
26
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
27
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
28
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
29
|
(HPO:0000496)
|
Abnormality of eye movement |
|
|
|
|
79 / 7739
|
|
30
|
(MedDRA:10010984)
|
Corneal abrasion |
|
|
|
|
4 / 7739
|
|
31
|
(OMIM)
|
Aspiration due to orofacial incoordination |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
33
|
(OMIM)
|
Vertebral abnormalities |
|
|
|
|
2 / 7739
|
|
34
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
35
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
36
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
37
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
38
|
(OMIM)
|
No motor skills acquired (in some) |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
40
|
(HPO:0100660)
|
Dyskinesia |
|
|
|
|
19 / 7739
|
|
41
|
(OMIM)
|
Poor or absent speech |
|
|
|
|
2 / 7739
|
|
42
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
43
|
(OMIM)
|
Cranial nerve dysfunction |
|
|
|
|
2 / 7739
|
|
44
|
(OMIM)
|
Brain MRI shows flattening of the ventral pons |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Absence of the inferior olives |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Hypoplastic or absent middle cerebellar peduncles |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Decussation of the superior cerebellar peduncles |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Abnormal 'cap' on the dorsal pons extending into the fourth ventricle |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Ectopic dorsal pontine transverse bundle of fibers forms the 'cap' |
|
|
|
|
1 / 7739
|
|
50
|
(OMIM)
|
Behavioral abnormalities |
|
|
|
|
3 / 7739
|
|
51
|
(OMIM)
|
Emotional fragility |
|
|
|
|
1 / 7739
|
|
52
|
(OMIM)
|
Easily frustrated |
|
|
|
|
2 / 7739
|
|
53
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|