Metadata | |
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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 |