header logo image header logo text
Downloads Login
Research
General Information
ZIRC
OBO ID: DOID:0090008
Term Name: immunodeficiency-centromeric instability-facial anomalies syndrome 1 Search Ontology:
Synonyms:
  • ICF syndrome 1
Definition: An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2. (2)
References:
Ontology: Human Disease   (DOID:0090008)
OTHER immunodeficiency-centromeric instability-facial anomalies syndrome 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1 242860
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None