OBO ID: DOID:0090009
Term Name: immunodeficiency-centromeric instability-facial anomalies syndrome 2 Search Ontology:
Synonyms:
  • ICF syndrome 2
Definition: An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21. https://www.ncbi.nlm.nih.gov/pubmed/21596365
References:
Ontology: Human Disease   ( DOID:0090009 )
Relationships
is a type of:
OTHER immunodeficiency-centromeric instability-facial anomalies syndrome 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ZBTB24 Immunodeficiency-centromeric instability-facial anomalies syndrome 2 614069
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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