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Metadata
ID DOID:0090009
Name immunodeficiency-centromeric instability-facial anomalies 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
Xrefs

ICD10CM:D84.8

OMIM:614069

Synonyms

ICF syndrome 2 [EXACT]

Parent Relationships

is_a immunodeficiency-centromeric instability-facial anomalies syndrome

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