Phenotypes associated with the disease retinal telangiectasia and hypogammaglobulinemia (OMIM:267900):
- Reduced delayed hypersensitivity (HP:0002972): Decreased ability to react to a delayed hypersensitivity skin test. Evidence: IEA. (OMIM:267900)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:267900)
- Retinal telangiectasia (HP:0007763): Localized, irregular dilatation of small tortuous intraretinal blood vessels. Evidence: IEA. (OMIM:267900)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: IEA. (OMIM:267900)