BONE MARROW FAILURE SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr:
OMIM Id: 615715
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 832 / 7739
2
 (HPO:0001882) Leukopenia 51 / 7739
3
 (HPO:0005528) Bone marrow hypocellularity 31 / 7739
4
 (HPO:0001903) Anemia 289 / 7739
5
 (HPO:0001873) Thrombocytopenia 224 / 7739
6
 (HPO:0001319) Neonatal hypotonia 101 / 7739
7
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: