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Human Disease

immunodeficiency-centromeric instability-facial anomalies syndrome 1

Term ID
DOID:0090008
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 )
Relationships
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Genes Involved
Zebrafish Models