Phenotypes associated with the disease Retinitis pigmentosa, X-linked, and sinorespiratory infections, withor without deafness (OMIM:300455):
- X-linked recessive inheritance (HP:0001419): 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:16055928)
- Recurrent Haemophilus influenzae infection (HP:0005376): Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of Haemophilus influenzae infection. Evidence: PCS. (PMID:16055928)
- High-frequency hearing impairment (HP:0005101): A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz). Evidence: PCS. (PMID:16055928)
- Recurrent bronchitis (HP:0002837): An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis. Evidence: PCS. (PMID:16055928)
- Chronic sinusitis (HP:0011109): A chronic form of sinusitis. Evidence: PCS. (PMID:16055928)
- Atelectasis (HP:0100750): Collapse of part of a lung associated with absence of inflation (air) of that part. Evidence: PCS. (PMID:16055928)
- Rod-cone dystrophy (HP:0000510): An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. Evidence: PCS. (PMID:16055928)
- Otitis media (HP:0000388): Inflammation or infection of the middle ear. Evidence: PCS. (PMID:16055928)