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Human Disease

immunodeficiency-centromeric instability-facial anomalies syndrome 2

Term ID
DOID:0090009
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
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Genes Involved
Zebrafish Models