ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 16
OrphanetNr:
OMIM Id: 130950
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001284) Areflexia 198 / 7739
2
(HPO:0001260) Dysarthria 329 / 7739
3
(HPO:0002078) Truncal ataxia 41 / 7739
4
(HPO:0007335) Recurrent encephalopathy 2 / 7739
5
(HPO:0001254) Lethargy 104 / 7739
6
(HPO:0001266) Choreoathetosis 57 / 7739
7
(HPO:0002080) Intention tremor 44 / 7739
8
(HPO:0002305) Athetosis 31 / 7739
9
(HPO:0003487) Babinski sign variable [HPO:skoehler] 179 / 7739
10
(HPO:0002311) Incoordination 84 / 7739
11
(HPO:0001252) Muscular hypotonia 990 / 7739
12
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
(OMIM) Encephalopathic attacks, episodic, associated with infection 2 / 7739
14
(OMIM) Residual ataxia 1 / 7739
15
(OMIM) Attacks characterized by lethargy, incoordination, loss of motor skills 1 / 7739
16
(OMIM) Hypotonia, mild 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Neuhauser et al. (1983) described 2 unrelated families in which a total of 5 members had recurrent encephalopathy affecting cerebellar and extrapyramidal structures. Affected individuals had onset in infancy or early childhood of acute encephalopathic episodes following presumably ...