FANCONI-LIKE SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 227850
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:0002754) Osteomyelitis 37 / 7739
2
 (HPO:0007606) Multiple cutaneous malignancies 1 / 7739
3
 (HPO:0001876) Pancytopenia 89 / 7739
4
 (HPO:0005939) Multiple bilateral pneumothoraces 1 / 7739
5
 (HPO:0002783) Recurrent lower respiratory tract infections 8 / 7739
6
 (HPO:0002719) Recurrent infections 107 / 7739
7
 (OMIM) Low IgA 1 / 7739
8
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: