- Stage 5 chronic kidney disease (HP:0003774): A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. Evidence: TAS. Frequency: 3/4. (OMIM:308940)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 1/4. (PMID:9915944)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: PCS. Frequency: 4/4. Onset: Adult onset (HP:0003581). (PMID:9915944)
- Glomerular basement membrane lamellation (HP:0030034): Presence of abnormal additional layers of the basement membrane of the glomerulus. Evidence: TAS. (OMIM:308940)
- Abnormal renal physiology (HP:0012211): An abnormal functionality of the kidney. Evidence: IEA. (OMIM:308940)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: IEA. Frequency: 3/4. (OMIM:308940)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: IEA. (OMIM:308940)
- Late young adult onset (HP:0025710): Onset of disease at an age of greater than or equal to 25 to under 40 years. Evidence: PCS. Frequency: 1/4. (PMID:9915944)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: 1/4. (OMIM:308940)
- Diffuse leiomyomatosis (HP:0006756). Evidence: IEA. (OMIM:308940)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. (OMIM:308940)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 3/4. (PMID:9915944)
- Nephropathy (HP:0000112): A nonspecific term referring to disease or damage of the kidneys. Evidence: TAS. (OMIM:308940)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: IEA. (OMIM:308940)
- Hematuria (HP:0000790): The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). Evidence: IEA. Frequency: 1/4. (OMIM:308940)
- Lenticonus (HP:0001142): A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly. Evidence: IEA. Frequency: 1/4. (OMIM:308940)
- Anterior lenticonus (HP:0011501): A conical projection of the anterior surface of the lens, occurring as a developmental anomaly. Evidence: TAS. (OMIM:308940)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: IEA. (OMIM:308940)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: IEA. (OMIM:308940)
- Microscopic hematuria (HP:0002907): Microscopic hematuria detected by dipstick or microscopic examination of the urine. Evidence: PCS. Frequency: 1/4. (PMID:9915944)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 1/4. (PMID:9915944)
- High-frequency sensorineural hearing impairment (HP:0001757): A form of sensorineural hearing impairment that affects primarily the higher frequencies. Evidence: IEA. (OMIM:308940)
- X-linked inheritance (HP:0001417): A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. Evidence: PCS. (PMID:9915944)
- Tracheobronchial leiomyomatosis (HP:0006524). Evidence: IEA. (OMIM:308940)
- Thickened glomerular basement membrane (HP:0004722): Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney. Evidence: TAS. Onset: Late onset (HP:0003584). (OMIM:308940)
These phenotypes are associated with the disease X-linked diffuse leiomyomatosis-Alport syndrome (OMIM:308940).