Locked-in syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Cerebromedullospinal disconnection
Number of Symptoms 14
OrphanetNr: 2406
OMIM Id:
ICD-10: G83.8
UMLs: C0023944
MeSH:
MedDRA: 10024792
Snomed: 38023001

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare neurologic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003781) Excessive salivation Frequent [Orphanet] 15 / 7739
2
 (HPO:0000651) Diplopia Very frequent [Orphanet] 37 / 7739
3
 (HPO:0000478) Abnormality of the eye Very frequent [Orphanet] 126 / 7739
4
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
5
 (HPO:0100021) Cerebral palsy Very frequent [Orphanet] 36 / 7739
6
 (HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 212 / 7739
7
 (HPO:0004374) Hemiplegia/hemiparesis Very frequent [Orphanet] 158 / 7739
8
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
9
 (HPO:0002015) Dysphagia Frequent [Orphanet] 301 / 7739
10
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
11
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
12
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
13
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
14
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: