SPLENOMEGALY, CYTOPENIA, AND VISION LOSS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 3
OrphanetNr:
OMIM Id: 614979
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:0000970) Anhidrosis 24 / 7739
2
(HPO:0001025) Urticaria 73 / 7739
3
(HPO:0001876) Pancytopenia 89 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: