- Epiphora (HP:0009926): Abnormally increased lacrimation, that is, excessive tearing (watering eye). Evidence: PCS. Frequency: 4/4. (PMID:24372406)
- Dacryocystocele (HP:0030752): A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve. Evidence: PCS. (PMID:24372406)
- Periorbital edema (HP:0100539): Edema affecting the region situated around the orbit of the eye. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:149700)
- Conjunctivitis (HP:0000509): Inflammation of the conjunctiva. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:149700)
- 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: PCS. (PMID:24372406)
- Sinusitis (HP:0000246): Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:149700)
- Dacryocystitis (HP:0000620): Inflammation of the nasolacrimal sac. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:149700)
- Lacrimal duct atresia (HP:0000564): A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct. Evidence: IEA. (OMIM:149700)
These phenotypes are associated with the disease familial congenital nasolacrimal duct obstruction (OMIM:149700).