- Albinism (HP:0001022, a Human Phenotype Ontology term): An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). Evidence: IEA. (OMIM:300700)
- Patchy hypo- and hyperpigmentation (HP:0007509, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:300700)
- Ocular albinism (HP:0001107, a Human Phenotype Ontology term): An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina. Evidence: PCS. Frequency: 0/4. (PMID:2349949)
- X-linked inheritance (HP:0001417, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. Evidence: PCS. (PMID:2349949)
- Piebald skin depigmentation (HP:0007544, a Human Phenotype Ontology term): Congenital large depigmented (white) macule of irergular rhomboid shape. Piebald skin depigmentation generally presents with multiple such macules in the affected individual. There may be smaller (5-15mm), discrete, skin-colored and hyperpigmented macules interspersed within the depigmented macules. Evidence: PCS. (PMID:2349949)
- Congenital sensorineural hearing impairment (HP:0008527, a Human Phenotype Ontology term): A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset. Evidence: IEA. (OMIM:300700)
These phenotypes are associated with the disease albinism-hearing loss syndrome (OMIM:300700, an entry in Online Mendelian Inheritance in Man).