Hot water reflex epilepsy

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr: 166412
OMIM Id: 613339
613340
ICD-10: G40.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Reflex epilepsy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002329) Drowsiness 19 / 7739
2
 (HPO:0002373) Febrile seizures rare [HPO:skoehler] 37 / 7739
3
 (HPO:0001252) Muscular hypotonia 990 / 7739
4
 (HPO:0003621) Juvenile onset 105 / 7739
5
 (HPO:0001425) Heterogeneous 132 / 7739
6
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
 (HPO:0003829) Incomplete penetrance 85 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: