- Increased red cell osmotic resistance (HP:0005546). Evidence: IEA. (OMIM:604278)
- Hyperamylasemia (HP:0410288): The concentration of amylase in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:10545938)
- Band keratopathy (HP:0000585): An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation. Evidence: PCS. Frequency: 3/3. (PMID:8142230;PMID:10545938)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 3/3. (PMID:8142230;PMID:10545938)
- Early young adult onset (HP:0025708): Onset of disease at an age of greater than or equal to 16 to under 19 years. Evidence: PCS. Frequency: 1/2. (PMID:10545938)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 3/3. (PMID:8142230;PMID:10545938)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/2. (PMID:10545938)
- Decreased serum bicarbonate concentration (HP:0032066): An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation. Evidence: PCS. Frequency: 1/1. (PMID:8142230)
- Impaired renal tubular reabsorption of bicarbonate (HP:4000010): Decreased renal tubular reabsorption of bicarbonate. Evidence: PCS. Frequency: 1/1. (PMID:8142230)
- 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:10545938)
- Hypokalemia (HP:0002900): The concentration of potassium(1+) in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:8142230)
- Hyperchloremic acidosis (HP:0001995): Acidosis (pH less than 7.35) that develops with an increase in ionic chloride. Evidence: IEA. (OMIM:604278)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: PCS. Frequency: 2/2. (PMID:10545938)
- Cerebral calcification (HP:0002514): The presence of calcium deposition within the cerebrum. Evidence: PCS. Frequency: 1/1. (PMID:8142230)
- Proximal renal tubular acidosis (HP:0002049): A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia. Evidence: PCS. Frequency: 3/3. (PMID:8142230;PMID:10545938)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 3/3. (PMID:8142230;PMID:10545938)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: PCS. Frequency: 3/3. (PMID:8142230;PMID:10545938)
- Bicarbonate-wasting renal tubular acidosis (HP:0004910). Evidence: PCS. Frequency: 2/2. (PMID:10545938)
- Metabolic acidosis (HP:0001942): Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. Evidence: PCS. Frequency: 1/1. (PMID:8142230)
These phenotypes are associated with the disease autosomal recessive proximal renal tubular acidosis (OMIM:604278).