Metadata | |
---|---|
ID | DOID:0090010 |
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 |