immunodeficiency-centromeric instability-facial anomalies syndrome 1

Term ID

DOID:0090008

Synonyms

• ICF 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. (2)

References

• ICD10CM:D84.8
• MIM:242860

Ontology

Human Disease   ( DOID:0090008 )