Metadata | |
---|---|
ID | DOID:0090007 |
Name | immunodeficiency-centromeric instability-facial anomalies syndrome |
Definition | A syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases. https://www.ncbi.nlm.nih.gov/pubmed/17893117, https://www.ncbi.nlm.nih.gov/pubmed/26216346 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
ICF syndrome [EXACT] |
Parent Relationships |
is_a syndrome |