- Decreased circulating complement factor I concentration (HP:0005356): Concentration of the complement component factor I in the blood circulation below the lower limit of normal. Evidence: TAS. (OMIM:235400)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: IEA. (OMIM:235400)
- Hyperlipidemia (HP:0003077): An elevated lipid concentration in the blood. Evidence: IEA. (OMIM:235400)
- Hemolytic-uremic syndrome (HP:0005575): A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease. Evidence: TAS. (OMIM:235400)
- Aphasia (HP:0002381): An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. Evidence: IEA. (OMIM:235400)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: IEA. (OMIM:235400)
- Purpura (HP:0000979): Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae. Evidence: IEA. (OMIM:235400)
- Reticulocytosis (HP:0001923): An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. Evidence: IEA. (OMIM:235400)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: IEA. (OMIM:235400)
- Hemiparesis (HP:0001269): Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. Evidence: IEA. (OMIM:235400)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. (OMIM:235400)
- Decreased circulating complement factor H concentration (HP:0005369): Concentration of the complement component factor H in the blood circulation below the lower limit of normal. Evidence: TAS. (OMIM:235400)
- Schistocytosis (HP:0001981): The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood. Evidence: IEA. (OMIM:235400)
- Decreased circulating complement C3 concentration (HP:0005421): Concentration of the complement component C3 in the blood circulation below the lower limit of normal. Evidence: IEA. (OMIM:235400)
- Acute kidney injury (HP:0001919): Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). Evidence: IEA. (OMIM:235400)
- Microangiopathic hemolytic anemia (HP:0001937). Evidence: TAS. (OMIM:235400)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: IEA. (OMIM:235400)
- 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: IEA. (OMIM:235400)
- Anuria (HP:0100519): Absence of urine, clinically classified as below 50ml/day. Evidence: TAS. (OMIM:235400)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: IEA. (OMIM:235400)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:235400)
- Increased blood urea nitrogen (HP:0003138): An increased amount of nitrogen in the form of urea in the blood. Evidence: IEA. (OMIM:235400)
- Elevated circulating creatinine concentration (HP:0003259): An increased amount of creatinine in the blood. Evidence: IEA. (OMIM:235400)
- Decreased circulating complement factor B concentration (HP:0005416): Concentration of the complement component factor B in the blood circulation below the lower limit of normal. Evidence: IEA. (OMIM:235400)
- Coma (HP:0001259): The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli. Evidence: IEA. (OMIM:235400)
These phenotypes are associated with the disease hemolytic uremic syndrome, atypical, susceptibility to, 1 (OMIM:235400).