| Metadata | |
|---|---|
| ID | DOID:0090008 |
| Name | immunodeficiency-centromeric instability-facial anomalies syndrome 1 |
| Definition | An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2. https://www.ncbi.nlm.nih.gov/pubmed/10647011, https://www.ncbi.nlm.nih.gov/pubmed/17893117 |
| Xrefs | |
| Synonyms |
ICF syndrome 1 [EXACT] |
| Parent Relationships |
is_a immunodeficiency-centromeric instability-facial anomalies syndrome |