Disease

immunodeficiency-centromeric instability-facial anomalies syndrome 4

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 or compound heterozygous mutation in the HELLS gene on chromosome 10q23.

Synonyms

ICF syndrome 4

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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