Phenotypes associated with the disease glaucoma 3, primary infantile, B (OMIM:600975):
- 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:600975)
- Primary congenital glaucoma (HP:0008007). Evidence: IEA. (OMIM:600975)