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 | |
Synonyms |
ICF syndrome 2 [EXACT] |
Parent Relationships |
is_a immunodeficiency-centromeric instability-facial anomalies syndrome |