| Metadata | |
|---|---|
| ID | DOID:0090010 |
| PURL | http://purl.obolibrary.org/obo/DOID_0090010 Copy |
| Name | immunodeficiency-centromeric instability-facial anomalies syndrome 3 |
| Definition | An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous mutation in the CDCA7 gene on chromosome 2q31. https://www.ncbi.nlm.nih.gov/pubmed/26216346 |
| Xrefs | |
| Synonyms |
ICF syndrome 3 [EXACT] |
| Parent Relationships |
is_a immunodeficiency-centromeric instability-facial anomalies syndrome |