EPILEPSY-TELANGIECTASIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr:
OMIM Id: 226850
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000664) Synophrys 112 / 7739
2
 (HPO:0001999) Abnormal facial shape 169 / 7739
3
 (HPO:0000524) Conjunctival telangiectasia 17 / 7739
4
 (HPO:0001249) Intellectual disability 1089 / 7739
5
 (HPO:0001250) Seizures 1245 / 7739
6
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
7
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
 (OMIM) Low serum IgA 1 / 7739
9
 (OMIM) Peculiar facies 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: