Disease

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.

Synonyms

ICF syndrome 1

Cross References

Parent Terms

immunodeficiency-centromeric instability-facial anomalies syndrome

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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