AICARDI-GOUTIERES SYNDROME 6

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr:
OMIM Id: 615010
ICD-10:
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: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly rare [HPO:skoehler] 832 / 7739
2
 (HPO:0000639) Nystagmus rare [HPO:skoehler] 555 / 7739
3
 (HPO:0001263) Global developmental delay 853 / 7739
4
 (HPO:0002063) Rigidity 92 / 7739
5
 (HPO:0001337) Tremor 200 / 7739
6
 (HPO:0002371) Loss of speech 15 / 7739
7
 (HPO:0002376) Developmental regression rare [HPO:skoehler] 74 / 7739
8
 (HPO:0006957) Loss of ability to walk 7 / 7739
9
 (HPO:0002514) Cerebral calcification rare [HPO:skoehler] 89 / 7739
10
 (HPO:0001878) Hemolytic anemia rare [HPO:skoehler] 83 / 7739
11
 (HPO:0002415) Leukodystrophy rare [HPO:skoehler] 30 / 7739
12
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: