Phenotypes associated with the disease hearing loss, X-linked 6 (OMIM:300914, an entry in Online Mendelian Inheritance in Man):
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 4/4. (PMID:23714752)
- Bilateral sensorineural hearing impairment (HP:0008619, a Human Phenotype Ontology term): A form of sensorineural hearing impairment that affects both ears. Evidence: PCS. Frequency: 4/4. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:23714752)
- X-linked recessive inheritance (HP:0001419, a Human Phenotype Ontology term): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:23714752)
- Incomplete partition of the cochlea (HP:0011373, a Human Phenotype Ontology term): Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema. Evidence: PCS. Frequency: 4/4. (PMID:23714752)